Inherited Metabolic Disease Flashcards
(294 cards)
1
Q
4 Categories of Inherited Metabolic Disease
A
- Single Mutation
- Mutation by duplication or deletion of gene
- Single Nucleotide polymorphism
- Mitochondrial gene mutation
2
Q
Single base pair mutation or structural rearrangement of sequence of DNA
A
Single mutation
3
Q
Copy number variation
A
Mutation by duplication
4
Q
Most common nucleotide pleomorphism
A
wild-type
5
Q
Non-mendelian pattern mainly maternal
A
Mitochondrial gene mutation
6
Q
Mutation only involve single base pair
A
Point mutation
7
Q
Affects only part of a certain cell population that plays a role in cancer and aging
A
DNA mutation of somatic cell
8
Q
Distribution of defect
A
10 in 1000 live birthd
7 AD
2.5 AR
the rest
9
Q
A measure of individual who will show phenotype ands expressivity
A
Penetrance
10
Q
Penetrance is characteristic of what mendelian pattern
A
AD
11
Q
occurs only in homozygous state where it manifest soon after birth
A
AR
12
Q
Mutant gene affects mainly one sex
A
X-Linked
13
Q
Female will suffer the same fare as male during the embryonal development
A
Lyon Phenomenon
14
Q
Polygenic and complex gene and has high degrees of familial incidence
A
multifactorial genetic disease
15
Q
Example of multifactorial genetic disease
A
Schizophrenia
Tourette Syndrome
16
Q
Mutant mitochondrial gene arranged next to normal gene
A
heteroplasmy
17
Q
The most common complex affected in the electron transport chain
A
Complex IV
18
Q
Complex I involvement results to
A
Leber optic atrophy
19
Q
Congenital lactic acidosis is a defect of:
A
Complex I
20
Q
2 most common mitochondrial disease
A
- Ragged Red
2. Systemic lactic acidosis
21
Q
What is the first definite indication of disorder of CNS
A
Seizure
22
Q
Top 5 inborn error of metabolism
A
- PKU
- Biotinidase deficiency
- Very long chain Acyl DH deficiency
- Galactosemia
- Cobalamin deficiency
23
Q
3 most common identified metabolic disease
A
- PKU
- Hyperphenylalaninemia
- Hypothyroidism
24
Q
Early onset seizure in utero and auditory startle with mental retardation
A
Pyridoxine Dependent Seizure
25
diagnostic for Pyridoxine Dependent Seizure
Increase excretion of xanthurenic acid
| Increase GABA in brain tissue
26
Gene involve in Pyridoxine Dependent Seizure
ALDH7A1
27
Treatment for Pyridoxine Dependent Seizure
50-100mg VIT B6
40mg to permit normal development
28
Neonatal with increased phenylalanine are unresponsive to measures that lowers phenylalanine, these infants has defect in:
Biopterin deficiency
29
Characterized by vomiting and darrhea after ingestion of milk and manifest with hypotonia automnatism and cataract
Galactosemia
30
What causes cataract in galactosemia
accumulation of galactitol
31
What protein should be restricted in propionic aciduria
Leucine
32
This ketotic aciduria respond to Vit B12
Methylmalonic aciduria
33
also known as sweaty foot syndrome with recurrent form of cerebellar ataxia
Isovaleric aciduria
34
Characterized by low level of all catecholamines
L-amino acid decarboxylase
35
What is diagnostic for non ketotic form of hyperglycemia
Increased glycine in CSF
36
All 6 inborn errors in urea cycles are AR inheritance except
Ornithine Transcarbomylase (X-linked)
37
Urea abnormality where it manifest later in childhood that progress to spastic paraplegia and MR
Arginase deficiency
38
What is the most consistent feature in urea cycle abnormalities
Presence of respiratory alkalosis
39
Associated with brittleness of hair
Arginosuccinic aciduria
40
Histologic findings in Inherited Hyperammonemia
astrocytic swelling attributable to accumulation of glutamate synthase (simulates reye syndrome)
41
Treatment for Inherited Hyperammonemias
Na Benzoate
Na Acetate
Arginase
42
What is deficient in Maple Syrup Urine Disease
Alpha Ketoglutaric acid DH
43
Diagnostic test for MSUD
2,4 Dihydrophenylhydralazine (DNPH)
44
Pathologic findings in MSDU
pallor and loss of myelin after birth
45
Treatment for MSUD
Dietary restriction to branched chain AA
Thiamine responsive
Episodic Dialysis
46
Treatment of Sulfite Oxide Deficiency
Molybdenum and lower dietary intake
47
Most common cause of neonatal seizure
Hypocalcemia
48
Seizure tolerance of infants secondary to hypoglycemia
<30 mature infant
| <20mg/dl immature infant
49
What is the hallmark of all hereditary metabolic disease
Psychomotor regression
50
This is distinguished by a specific defect in myelin metabolism where there are massive destruction of white matter of brain
Leukodystorphy
51
Deficiency of enzyme necessary for degradation of specific peptide linkage in the intracytoplasmic lysosomes
Lysosomal Storage Disease
52
Class of intracellular lipid that is bound to ceramide
Sphingolipidoses
53
GM2 Gangliosidaosis
Tay Sachs Disease
54
What is the enzyme deficiency in Tay Sachs Disease
Hexosaminidase A
55
Manifestation of Tay Sachs Disease
```
Cherry red spot
Abnormal Startle
Tonic clonic seizure
dementia
blindness
```
56
EEG findings in Tay Sachs Disease
paroxysmal slow wave with multiple spike
57
This occurs in non-jewsug children similar to tay sach except for increased lipid storage
Sandhoff disease
58
What is deficient in Sandhoff disease
B-hexosaminidase A and B
59
What enzyme is deficient in Gaucher's Disease
Glucocerebrosidase deficiency
60
Prognosis of gauchers disease
90% do not survive beyond 2 years old
61
What is diagnostic in Gaucher's disease
Serum acid phosphatase
| Gauchers cell found in lung and marrows
62
Types of Gauchers
Gauchers Type I - non neuropathic/benign
Gauchers Type II - Infantile form
Gauchers Type III - neuronopathic form
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What is highly clinical feature of Gauchers Type III
Impaired lateral gaze with intact dolls eye
64
This occurs 3-9 months begins as enlargement of liver spleen and LN
Niemann Pick
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Pathologic findings in Niemann Picks
Foam Cells
66
Described Foam cells
Vacuolated blood lymphocytes
67
Infantile GM1 Gangliosidosis enzyme deficiency
B-Galactosidase deficiency
68
This is characterized by dysmoprhic facial feature but lacks psychomotor developmental delay with loss of vision and coarse nystagmus
Infantile GM1 Gangliosidosis
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What is the radiographic findings in Infantile GM1 Gangliosidosis
Subperiostal bone formation
| Midshaft widening and demineralization
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Krabbe disease is characterized by deficiency of what enzyme
Galactocerebrosidase (GALC mutation)
71
Imaging findings of Krabbe Disease
Increase signal in the internal capsule and basal ganglia
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What is the NCV findings of patient with galactosidase deficiency
Demyelinating polyneuropathy
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This result to early destruction of oligodendrocytes and deplete lipids in the white matter
Psychosine
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Function of Galactocebrosidase
degrades galactcerebrosidase to cerebroside to galactose
75
Globoid cell Reaction is seen in what disease
Krabbe Disease
76
This result from impaired catabolism of galactosyl ceramide and characterized by large histiocytic containing accumulated metabolite
Globoid Cell
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Treatment of Krabbe Disease
Transplanted Umbilical hematopoietic cell
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This occur in the setting of normal development and triggered by infection causing progressive encephalopathy punctuated by rapid deterioration
Vanishing White Matter Disease
79
Genetic Defect in Vanishing white matter disease
CIF2B
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What is the genetic mutation of Farber Disease
ASAH1
81
What is the characteristic clinical findings of Farber Disease
Periarticular and subcutaneous swelling and progressive arthropathy
82
What is enzyme deficient in Farber disease
Ceramidase deficiency
83
Clinical Manifestation of Pelizaeus Merzbacher
Pendular nystagmus
Spastic weakness
Optic atrophy
84
Pathologic findings of Pelizaeus Merzbacher
Tigroid pattern
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pattern of inheritance of Pelizaeus Merzbacher
X-Linked
86
This is characterized by regression of psychomotor function, enlarged head, SNHL and Blond hair and light complexion
Canavan Disease (Spongy degeneration of infancy)
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Diagnostic for Spongy degeneration of infancy
Increased urinary of NAA
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What is mutation in patient with Alexanders Disease
GFAP
89
Characteristic histopathologic findings in Alexanders disease
Rosenthal fiber
90
These are pial degradation products with eosinophilic dyaline border seen around the blood vessel
Rosenthal fiber
91
This is a progressive disease of gray matter (poliodystrophy)
Alper disease
92
This is characterized by sweating attacks, microcephaly and late onset jaundice
Alpers disease
93
CT Scan findings of Alper disease
Progressive atrophy specifically occipital lobe
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Pathological findings in Alpers Disease
Walnut Brain
95
What are the diagnostic result in congenital lactic acidosis
Acidosis with an anion gap and increased serum lactate
96
This disease is characterized by hypotonia, stippled and irrgular calcification of patella and greater trochanter
Cerebrohepatorenal Disease (Zellweger)
97
Outcome of Zellweger disease
Dies in 1 month
98
Biochemical findings of Zellweger disease
Elevated long chain fatty acid
99
Pattern of inhertitance of oculocerebrorenal syndrome
X-Linked
100
What chromosome is abnormal in oculocerebrorenal syndrome
Xq25.26
101
oculocerebrorenal syndrome key features
Bilateral cataracts
Glaucoma
Megalocornea
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What is the primary genetic defect of oculocerebrorenal syndrome
inositol phosphate phosphatase of Golgi Complex
103
This is characterized by premature birth and temperature instability
Menkes Disease
104
What is the highly clinical feature of Kinky or Steely hair disease
Depigmentation and felt like steel wool that it breaks easily (pili torti)
105
Characteristic arteriography findings of Menkes disease
tortuosity and elongation of cerebral and systemic vessel
106
What is the gene defect pf Menkes Disease
ATP7A
| failure of absorption of copper from GIT
107
Pattern of inheritance of Menkes Disease
X-linked recessive
108
Treatment of Menkes Disease
Cupric Salt
109
Disease with rapid pendular nystagmus
Pelizaeus Merzbach
Krabbe
Cockayne
110
Diseases that presents with Macular Cherry red spot (3)
Tay Sachs
Sandhoff
Niemman
111
Corneal Opacifications are seen in these diseases (3)
Lowe
Infantile GM1
MPS
112
Cataract are seen in these diseases (3)
Lowe
Galactosemia
Zellwegers
113
If patient presents with dysmorphic facial feature what test should be given to differentiate between MPS and Oligosaccharidoses
Urinary Berry Spot Test
MPS (+)
Oligosaccharidoses (-)
114
If the Urinary Berry test is (+) what is the next feature to ask
Presence of developmental delay
| if (-) Schei, Morquio and Manteaoux Landy
115
What additional test should be given if the child is negative for Urinary Berry Spot Test
Test for urinary salic acid secretion
| if elevated: Mucolipidosis I II III and GM1 Gangliodosis
116
(+) urinary berry spot test with developmental delay?
```
Hurler
Hurler Schei
Hunter
San Filipo
B-Glucronidase
MucoSaulfatidosis
```
117
These conditions will present as visceromegaly
Niemann Pick
Gaucher
Pompe
Farber
118
What is the enzyme deficient in PKU
Phenylalaniune Hydroxylase Deficiency
119
What are the 3 characteristics of PKU
1. Mental retardation is invariable
2. Other elevated Phenylalanine without PKU may have no CNS involvement
3. Progressive spastic paraplegia - rare adult type without neurologic manifestation
120
What causes the musty odor of urine
Phenylacetic acid
121
What are the biochemical derangement in PKU
elevated phenylalanine >15m/d
| elevated phenylpyruvic in blood and CSF
122
What is the screening used in PKU
Ferric Chloride
if (+) emerald green - PKU
if (+) navy blue - MSUD
123
Treatment for PKU
```
dietary restriction (maintain blood levels 5-10mg/dl)
If restriction might go to retardation which can be ameliorated by biopterin
```
124
This is a dermatologic aminoacidopathy causing mental retardation, lacrimation, plantar and palmar hyperhidrosis and photophobia
Hereditary Tyrosinemia
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Treatment for Tyrosinemia
Low tyrosine diet and PA diet
| Retonoids improve skin lesion
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What enzyme causes severe form of Tyrosinemia
Fumarylacetoacetate hydrolase
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This takes a form of encephalopathy with fluctuating EPS with ocular and vegetative symptoms
Tyrosine Hydroxylase deficiency
128
Treatment for Tyrosine Hydroxylase deficiency
L-Dopa
129
This condition is characterized by red scaly rash over theface and episodes of cerebellar ataxia precipitated by sun exposure and emotional stress
Hartnup Disease
130
What gene is mutated in Hartnup disease
SLCGA19
131
What is the biochemical defect in Hartnup Disease
Transport error of neutral AA across the tubule , excretion is increased in feces and urine mainly indoxyl sulfate
132
What are the management of Hartnup Disease
Nicotanamide
L-Tryptophan
Avoid exposure to sunlight and sulfonamide
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This is characterized by agenesis of cerebellum with or without MR and hypoventilation
Joubert Syndrome
134
Cerebellar ataxia with cataract and oligophrenia
Marihesco-Sjogren Disease
135
Familial cerebellar ataxia with retinal degeneration
Behr Disease
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This disease is characterized by impaired motor (spastic and ataxic) with reduced output of speech, grayish degeneration of macula and MR
Metachromatic Leukodystrophy
137
What enzyme is mutated in MLD
Aryl Sulfatase
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What is the function of Arly Sufatase
convert sulfatide to cerebroside
139
Two type of MLD
1. O-type - lack of gene product
2. R-type - low level
infantile - 2 O type
juvenile - either R or O
Adult - 2 R type
140
Diagnostic feature of MLD
Metachromatic granule and enhance macrophage
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This is characterized by MR, hypotonia , progressive blindness and optic atrophy
Neuroaxonal dystrophy
142
Histopathologic findings of neuroaxonal dystrophy
Swollen axoplasm in posterior column and nucleus of Goll and Burdach, cerebellar atrophy affecting granule cell layer
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MRI findings of Neuroaxonal dystrophy
Signal intensity to pallidum (iron deposit)
144
Gene defective in Neuroaxonal dystrophy
PLA2G6
145
Key feature of late infantile-early childhood Niemann Pick Disease
Paralysis of horizontal and vertical gaze
146
This is characterized by motor and MR, grayish macular degeneration and posterior column degeneration
Sea-blue histiocytes
147
Histologic feature of Sea Blue Histiocytes
Vacuolated macrophage and sea blue histiocytes
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Radiologic findings of Late infantile-CHildhood GM1 gangliosidosis
Mild hypoplasia of the thoracolubar vertebral border and acetabulum
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Late infantile-cHildhood GM1 gangliosidosis is what type
Type II
150
4 Types of Neuronal Ceroid Lipofuscinoses (Batten Disease)
1. Santavuiori-Haltia Finnish - infantile
2. Jansky - Bielchowsky - early childhood
3. Vogt-Spielmeyer - juvenile
4. Kuf - adult
151
All types of Neuronal Ceroid Lipofuscinosis are AR, except
Kuf
152
Characterized by retinal changes and EEG findings
Santavuiori-Haltia Finnish
153
Characteristic EEG findings of Santavuiori-Haltia Finnish
Spike and slow wave progressing to isoelectric
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What is diagnostic feature of Jansky - Bielchowsky
Presence of C-fragment
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what is the abnormal inclusion of Jansky - Bielchowsky
Azurophilic granules
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Characterized by myoclonic jerk evoked by sensory stimuli, inccordination dementia and mutism with retinal degeneration
Jansky - Bielchowsky
157
This group of disorder is characterized by neurologic and skeletal abnormality secondary to hyperplastic connective tissue at the base of the brain
MPS
158
All MPS are AR, except
Hunter (X-Linked)
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This is characterized by enlarge liver and spleen with gargoyle facie, conductive hearing loss and MR
Hurler Disease
160
What enzyme is deficient in Hurler
A-L-Iduronidase
| accumulation of Dermatan and heparan sulfate
161
Treatment for Hurler
```
BM transplant
Enzyme replacement (Iaronidase)
```
162
This disease has a deficient in iduronate sulfatase causing increased urinary dermatan and heparan
Hunter
163
What is the characteristic feature of Hunter
Absence of corneal clouding and less MR
164
This is characterized by dwarfism and osteoporosis and with high risk of SCI due to hypoplasia of odontoid process
Morquio Disease
165
What is the enzyme deficient in Maroteaux-Lax disease
Argylsulfatase B deficiency
166
This is characterized by cervical pachymeningitis with SC compression and severe skeletal abnormality with NORMAL intelligence
Maroteaux-Lax disease (MPS VI)
167
This is similar to Hurler that has increased excretion of urinary dermatan and heparan
Sly disease
| B-Glucoronidase deficiency
168
What are the 4 types of Mucoliposis
1. Lipomucopolysaccharidosis
2. I-Cell
3. Pseudohurler polydystrophy
4. Mucoliposis IV
169
This type of Mucolipidosis is the most common type
Type II (I-cell)
170
This type of Mucolipidosis has an onset of 2 years old with growth retardation and opacification and VHD
Mucolipidosis Type III
171
Described as refactile cytoplasmic granule
I-cell
172
This type of mucolipidosis is characterized by gargoylism, MR and cherry red spot
Type I (Lipomucopolysaccharidosis)
173
This is a hunter-like facies with hearing loss and spoke like opacities of lens where age of onset is 2 years old
Mannosidoses
174
What is the characteristic radiographic findings of Mannosidosis
beaking of vertebral body
175
This is an autosomal recessive inheritance presenting as spastic quadriplegia and decrebrate posturing and death at 4-6 years. May also manifest with enlarged salivary gland
Fucidosis
176
What is the characteristic dermatologic findings in Fucidosis
Angiokeratoma Corporis diffusum
177
What substance accumulates in fucidosis
lysosomal sphingolipids
Oligosacharrides
Glycoproteins
178
This is characterized by early onset psychomotor regreession, dementia and corticospinal signs and retinal abnormalities
Aspartylglycosaminuria
179
What gene is mutated in Cockayne Syndrome
Gene that mediate DNA repair
180
Imaging findings of Cockayne Syndrome
Calcification of Basal Ganglia
181
Ocular apraxia is seen in these diseases
Ataxia Telangiectasia
| Niemanns Pick
182
This condition can be exlcuded in the presence of normal CHON CSF, Normal NCV and biochemical studies
MLD
183
This condition requires sequencing test mitochondrial genome and CT scan that present with hypodensity in basal ganglia
Leigh Disease
184
This condition is considered as degenerative but AR inheritance characterized by steatorrhea, retinal degeneration with acanthocyctic deformity of RBC
Bassen-Kornzweig Acanthocytosis
185
Bssen-Kornzweig Acanthocytosis a.k.a
abetalipoproteinemia
186
Diagnostic for Bassen-Kornzweig Acanthocytosis
Spiky or thorny RBC
Low ESR
Low LDL
187
Pathologic Findings of Bassen-Kornzweig Acanthocytosis
Foamy vacuolated epithelial cells
Diminished purkinje, AHC and fibers of heart
VIT E deficiency
188
what will trigger the attacks in Bassen-Kornzweig Acanthocytosis
administration of low fat diet and high dose of VIT A and E
189
This condition is characterized by progressive muscle atrophy, acanthocytosis of RBC due to abnormality in surface Kell Antigen
Mcleod Syndrome
190
What is HARP syndrome
Hypocholesterol
Acanthocytosis
Retinitis Pigmentosa
Pallidal Atrophy
191
Pattern of inheritance of Familial Hypobetalipoproteinemia
AD
192
treatment for Familial Hypobetalipoproteinemia
Fat restriction and Vit E
193
Characterized by arrhythmic twitches of part of muscles(15-50s) considered as syndrome of gray matter diseases
Familial Polymyoclonus
194
This is characterized by myoclonus affecting both sexes with normal development with rapid eye movement and irregular movement
Myoclonic encephalopathy of infants (Infantile opsoclonus-myoclonus syndrome)
195
Treatment for Infantile opsoclonus-myoclonus syndrome
Dexamethasone
| Corticosteroids
196
laboratory findings of Infantile opsoclonus-myoclonus syndrome
Low level of 5-HT and HVA
| thus, respond to 5-hydroxyindole acetic acid
197
This condition starts with seizure, myoclonic jerk triggered by noise and tactile stimulation with cerebellar ataxia
Lafora Body polymyoclonus with epilepsy
198
Age of onset of Lafora-body
11-18 years old
199
EEG findings of Lafora Body polymyoclonus
diffuse slow wave with burst of focal and multifocal discharge
200
AED of choice in Ladfora Body Polymyoclonus
Methusuximide
| Valproic Acide
201
This is characterized by severe myoclonus, seizure and visual loss
Juvenile Ceroid Lipofuscinosis
202
In Juvenile Ceroid Lipofuscinosis, life ends at what age
10-15 years
203
What is the first lesion seen in uvenile Ceroid Lipofuscinosis
yellow gray area of degeneration in maculae
204
EEG findings of Juvenile Ceroid Lipofuscinosis
High voltage triphasic wave then delta predominate
205
What is the characteristic diagnostic confirmation of Juvenile Ceroid Lipofuscinosis
Inclusion of curvilinear with finger print pattern in EM
206
What differentiate Juvenile Ceroid Lipofuscinosis from Late Juvenile Ceroid Lipofuscinosis
presence of personality change and dementia in adult form
207
What gene is mutated in Late Juvenile Ceroid Lipofuscinosis
CLN 1 and 9
208
What enzyme is deficient in Sialidosis Type I
A-Neuraminidase Deficiency
209
Characterized by cherry red spot and episodic pain in hand and legs with polymyoclonus and cerebellar ataxia
Sialidosis Type I
210
This condition is characterized by degeneration of cerebellar dentate efferent system
Dentatorubral cerebellar atrophy with polymyoclonus
211
What is the pattern of inheritance of Dentatorubral cerebellar atrophy with polymyoclonus
Mitochondrial
212
Location of polymyoclonus of Dentatorubral cerebellar atrophy with polymyoclonus
Facial and bulbar muscle only
213
What is pathognomonic of Hepatolenticular degeneration
Katser Fleischer Ring
214
What is chelating agent of Wilsons Disease
BAL
215
What gene is mutated in Hepatolenticular degeneration
ATP7B
216
What are the disturbances in copper metabolism in Wilson Disease
1. Reduce rate of incorportion of copper into ceruloplasmin
| 2. Reduction in biliary excretion of copper
217
Age of onset of Wilson disease
2nd-3rd decade of life
218
This is the initial manifestation of Wilson Disease
EPS with proclivity of oropharngeal muscle and mouth held open "Vacuous smile"
219
What layer does copper deposits in Kayser Fleischer RIng
Descement Membrane
220
Confirmatory diagnosis of Wilson Disease
Liver biopsy with copper deposition (>200mg/cm of dry) and failure to incorporate label CU to ceruplasmin
221
MRI findings of Wilson Disease
T2 changes in laminar pattern;
| T1 signal abnormality in putamen
222
Pathologic findings of Wilson Disease
1. Cavitation of lenticular nuclei
| 2. Hyperplasia of protoplasmic Astrocytes
223
Treatment of Wilson Disease
Reduction of dietary Copper
Chelating agent (D-penicillamine)
Liver Transplant
224
What should be given to penicillamine to avoid anemia
Pyridoxine
225
This condition is characterized by idiopathic progressive myelopathy of lateral column simulate Degeneration of Vit B12
Hypocupric Myelopathy
226
Hypocupric Myelopathy responds to
Zinc
227
This condition is characterized by Pigmentary degeneration of globus pallidus
Hallervorden Spatz
228
What gene is mutated in Hallervorden Spatz
Panthothenate Kinase 2 (PANK-2)
229
What are the key features of Hallervorden Spatz
CST (motor)
EPS
MR
230
MRI findings of Hallervorden spatz
T2 weighted rim pallidal with white in its medial part with zone of necrosis
"eye of the tiger"
231
This condition is described as choreoathetosis with self-mutilation and hyperuricemia
Lesch-Nyhan Syndrome
232
What defect is affected in Lesch-Nyhan Syndrome
Xq26-q27 defect in hypoxanthine guanine phosporyl transferase
233
Treatment of Lesch-Nyhan Syndrome
Xantine oxidase inhibitor
234
What medication that will suppress mutilation
5-hydroxytryptophan
235
Chromosome involved in Fahr Disease
Chr 14q
236
This organ causes end organ insensitivity to parathyroid hormone with distinctive and developmental abnormality
Hypoparathyroidism
237
What differentiate hypoparathyroidism to pseydopseudohypothyroidism
Normal calcium metabolism
| normal neurologic manifestation
238
This is characterized by calcification of caudate, lenticular nuclei thalamus and frontal lobe with osteopetrosis and multiple craniopathies
Osteopetrosis
239
What is deficiency in Osteopetrosis
Carbonic Anhydrase II in RBC
240
Gene mutated in Osteopetrosis
CLCN7
241
This condition will manifest as progressive choreathetosis dystonia with acidemia
Glutaric acidemia
242
What is the enzyme involved in Glutaric acidemia
Glutaryl COA DH
243
Treatment for glutaric acidemia
Low CHON
| Trytophan and Lysine
244
This is an X-Linked recessive with impaired perixosomal oxidation of VLCFA that accumulates in the brain and adrenal
Adrenoleukodystrophy
245
What chromosome is mutated in ALD
Chr X28
246
Age of onset of VLCFA
4-8 years old
247
Clinical Syndrome of ALD
```
Browning of hands
Quadriparesis
Seizure
Decerebrate
Cortical Blindness
```
248
Biochemical and Clinical criteria of ALD
1. A progressive degeneration of cerebral whitematter in young males 1/2
2. Intermediate form of cerebral and spinal involvement 5%
3. Progressive spinal tract degeneration 25%
4. Chronic mild non progressive spastic paraparesis 10%
5. Familial instances of Addisons without neurologic involvement 10%
6. Form of originating at birth particularly male
249
Laboratory findings of ALD
Excess VLCFA
Decreased NA. K, Cl - atrophy of Adrenal gland
Decreased Serum Cortisol
Elevated CSF CHON
250
Treatment for ALD
Adrenal replacement
Enriched MUFA
BM transplant
251
non-MLF occurring sporadically with cerebellar ataxia and dementia
Orthochromatic Leukodystrophy
252
This condition is characterized by Cataracts and xanthosis of tendon sheath and lungs occurring late childhood
Cerebrotendinous xanthomatosis
253
Masses of crystalline of cholesterol in Brainstem cerebellum and spinal cord
Cerebrotendinous xanthomatosis
254
Gene mutated inCerebrotendinous xanthomatosis
CYP27A
255
What result to xanthomatosis deposit of cholesterol in Cerebrotendinous xanthomatosis
Defect in primary bile acid synthesis and increased hepatic production of cholesterol
256
Treatment for Cerebrotendinous xanthomatosis
Chenodeoxycholic acid
257
This condition is chatracterized by tall, high arched slender with arachnodactyly and dislocation of lenses
Homocystinuria
258
What is the direction of dislocation of lenses in Homocystinuria
downward
259
What is the mechanism of stroke in Homocystinuria
abnormal platelet clotting favors thrombosis
260
Laboratory findings of Homocystinuria
Increase Homocytine and Methionine
| Decreased Cystathione
261
Treatment fr Homocystinuria
Large Dose of pyridoxine
Folate
Cobalamine
262
This condition is characterized by childhood onset of lancinating pain and dysesthesia of the extremities evoke by fever hot weather and exercise
Fabry Disease
263
Other name for Fabry Disease
Andersen-Fabry disease
264
Dearmatologic feature of Fabry
Angiokeratoma corporis diffusum
265
What is deficient in Fabry Disease
Alpha galactosidase A
| accumulation of ceramide trihexoside
266
Mechanism of stroke in Fabry Disease
Occurs in adulthood with confluent of cerebral white matter changes
267
This is prominent in periumbilically and resembles with angioma that obliterate with slight pressure
Angiokeratoma
268
Treatment for Fabry Disease
Enzyme replacement
269
Top 3 diseases where intellect as a manifestation of inherited metabolic disease (in order)
Wilson
ALD
MLD
270
What structures are severely involved in leukodystrophy
CST
Cerebellar peduncle
Sensory
Optic Nerve
271
What structures are severely involved in poliodystrophy
Myoclonus
Dementia
Retinal lesion
272
Involvement of both gray and white matter
Galactolipids
| Gangliosides
273
These diseases involves bilateral symmetrical diffuse deep hemisphere
CADASIL
Susac
Lymphoma
Gliomatosis Cerebri
274
This is a subsarcollemal intermyofibrillar collection of membranous material in Type I muscle Fiber
Ragged Red Fiber
275
What is the stain for Ragged Red Fiber
Gomori Trichrome
276
What is the unifying feature of mitochondrial disease
Elevation of pyruvate or lactate to pyruvate ratio
277
What is the mildest form of muscle disorder caused by mitochondrial disease
Mitochondrial Myopathies
278
Pattern of weakness weakness of mitochondrial myopathy
static proximal weakness
279
Mutation of mitochondrial myopathies
3250
280
Pathology of mitochondrial myopathy
(+) ragged red fiber
281
Progressive ptosis and ophthalmoplegia and retinitis pigmentosa
Kearn Sayre Syndrome
282
This disorder is characterized by symptoms are precipitated by febrile illness with generalized seizure, myoclonic seizure, ataxia and delayed walking
Leigh Syndrome
283
What is mutation involved in Leigh Disease
8993
| RANBP3
284
RANBP3 codes for
nuclear pore
285
What is mutated Gene NARP
8993
286
What is deficient in NARP syndrome
Pyruvate decarboxylase
| Pyruvate deficiency
287
This condition is characterized by psychomotor regression, hypotonia and convulsion associated with deletion of mitochondrial DNA
Congenital Lactic Acidosis Recurrent Ketoacidosis
288
Pathology of Congenital Lactic Acidosis Recurrent Ketoacidosis
Ragged Red Fiber
289
This condition is characterized by progressive epilepst and myoclonus
Myoclonic epilepsy with ragged red
290
Myoclonic epilepsy with ragged red age of onset
60 years old
291
Gene mutated in Myoclonic epilepsy with ragged red
8344
292
What is highly suggestive of mitochondrial disorder
Unexplained onset of diabetes and deafness
293
Histopathologic findings in Leigh Disease
Bilateral symmetrical spongy neuronal myelin degenera
294
NARO stands for
Neuropathy Ataxia and Retinitis Pigmentosa
