Congenital D/o p1 - Amino acid, organic acidurias, carb mtab, lysosomal, sphingolipidoses Flashcards
(106 cards)
1
Q
Glycogen storage diseases involving liver
A
1, 3, 4, 6
2
Q
Glycogen storage diseases involving muscle
A
5, 7
3
Q
Glycogen storage disease involving muscle, liver, and heart
A
2 (pompe)
4
Q
Glycogen storage diseases in order
A
Very Poor Carbohydrate Affects Muscle and Hepatic Target
- Von Gierke
- Pompe
- Cori’s
- Andersen’s
- McArdle
- Her’s
- Tauri
5
Q
GSD with defective muscle glycogen phosphorylase
A
McArdle
6
Q
McArdle disease type, defective enzyme
A
GSD, Muscle Glycogen phosphorylase
7
Q
Pompe disease type, defective enzyme
A
GSD, Acid Maltase
8
Q
Von Gierke disease type, defective enzyme
A
GSD, glucose-6 phosphorylase
9
Q
Fabry key unique finding
A
angiokeratoma
10
Q
Angiokeratoma disease
A
Fabry
11
Q
Gaucher unique finding
A
Femoral necrosis
12
Q
Femoral Necrosis disease
A
Gaucher
13
Q
Krabbe unique finding
A
optic atrophy
14
Q
Sphingolipidoses without cherry red spot
A
Fabry, Gaucher
15
Q
Sphingolipidoses without HSM
A
Metachromatic Leukodystrophy
Tay Sachs
Fabry
16
Q
Large head inborn errors
A
Alexander
Canavan’s
Tay Sachs
17
Q
Sphingolipidosis with microcephaly
A
Krabbe
18
Q
Gaucher path
A
crumpled tissue paper gaucher cells
19
Q
Tay-sachs path
A
Onion skin layers, whorled membrane
20
Q
Krabbe path
A
multinucleated globoid cells
21
Q
Leukodystrophies involving U fibers
A
Alexander’s
Canavan
22
Q
OTC deficiency labs (ammonia, pH, anion gap, glucose)
A
Increased ammonia
respiratory alkalosis
normal anion gap
normal glucose
23
Q
PKU enzyme
A
phenylalanine hydroxylase
24
Q
PKU brief symptoms
A
microcephaly, sz, musty urine, light pigment, eczema
25
MSUD Enzyme
branched chain alpha ketoacid dehydrogenase
26
MSUD symptoms
Hypotonic, 4-7d apnea, optistotonic posture, fluctuating tone, sz
27
MSUD lab
Increased leucine, isoleucine, valene
28
Nonketotic hyperglycinemia symptoms
Neonatal hiccups --> hypotonic, myoclonic sz, resp fail
29
Lowe syndrome other name
oculocerebrorenal syndrome
30
Lowe syndrome symptoms
oculo - glaucoma, buphthalmos, cataracts, blind
Cerebro - hypotonia, sz, peripheral neuropathy
Renal - prox RTA, fanconi synd, rickets
31
Homocystinuria inheritance
AR
32
Homocystinuria enzyme function
defect methionine mtab --> poor collagen mtab, primarily cystathionine beta synthatase.
33
Homocystinuria sx
Marfanoid, ectopia lentis
malar flush, livedo reticularis
thrombus from thickened vessel wall
34
Homocystinuria labs
increased methionine, homocystine
35
Homocystinuria supplements
B6, B12, folate
36
Hartnup function problem
defect transport of neutral amino acids in kidney and small intestine
37
Hartnup sx
photosensitive rash
| Intermittent episodes ataxia, AMS, hypotonia
38
Pyruvate dehydrogenase deficiency enzyme function
decarboxylate pyruvate to CO2 and acetyl CoA
39
Pyruvate dehydrogenase deficiency sx
Episodic symptoms - high carb meals!
| Ataxia, nystag, areflexia, weak, hypotonia
40
Pyruvate dehydrogenase deficiency labs
Lactic and pyruvic acidosis
41
Biotinidase deficiency sx
sz, hypotonia, ataxia, spastic paraparesis
| Hearing/vision loss, alopecia (or other cutaneous)
42
Propionic acidemia enzyme
propionyl-CoA carboxylase
43
Propionic acidemia sx
Hepatomegaly, bleeding.
| Poor feed, hypotonia --> sz, coma, basal ganglia :(
44
Propionic acidemia labs
Mtab acidosis with ketosis
elevated ammonia
elevated glycine and propionic acid
45
Methylmalonic acidemia sx
Bleeding, severe ID
| FTT, resp distress, hypotonia
46
Methylmalonic acidemia labs
Mtab acidosis
ketosis
elevated ammonia
elevated glycine
47
Pompe infantile timeline, sx
```
rapid progression (die first few mos)
hypotonia, cyanosis and dyspnea, lg tongue, liver/heart bad
```
48
Pompe childhood form timeline, sx
Onset ~2yo - die pulm infxn and resp fail.
Prox weak, hypotonia, lg calves, lg heart/liver
49
Pompe adult form age, sx
2nd-4th decade
Slow progressive proximal weakness, esp diaphragm --> NM resp prob
No cardiomegaly, hepatomegaly, ID
50
Pompe path
Vacuolated sarcoplasm with glycogen accum
51
Glycogen storage disease enzyme memory tools
AB (Andersen's - Branching
CD (Cori - debranching)
M=M (McArdle - Muscle glycogen phosphorylase)
H=H (Her's - Hepatic glycogen phosphorylase)
Rest is a G.A.P
Von Gierke (1) - Glucose 6 phosphorylase
Pompe (2) - Acid maltase
Tauri (7) - Phosphofructokinase
52
Galactosemia sx
Vomiting, hepatomegaly, cataracts
| Hypotonia --> cog impair, ataxia, tremor
53
Galactosemia lab
reducing substances in urine
54
GLUT-1 deficiency gene
SLC2A1
55
GLUT-1 deficiency sx
Sz, microcephaly, complex invol mvts
56
Niemann Pick A/B enzyme
acid sphingomyelinase
57
Niemann Pick A sx
Infancy, hypotonia, cherry red spot, HSM, regression, never sit
58
Niemann Pick B sx
Mid childhood (may make to adult), just visceral sx (interstitial lung, HSM)
59
Niemann pick A/B path
Vacuolated histiocytes ("foam cells")
Concentric lamellar bodies
Zebra bodies
60
Niemann Pick C defect
Defect intracellular cholesterol circulation
61
Niemann Pick C lab
Abnormal filipin test
62
Niemann Pick C sx
Visceromegaly and hepatic :(
| Ataxia, vertical gaze apraxia. Then spastic, sz
63
Fabry inheritance, enzyme
X-linked
Alpha galactosidase
"Fabulous alpha guy!"
64
Fabry sx
Small fiber neuropathy (lancing/burning pain, autonomic)
Angiokeratomas - primarily abdomen/legs
Cardiac - valvular, arrhythmia, cardiomyopathy
Renal - acute renal fail, HTN, uremia
Vascular - ischemic stroke
Corneal opacities
65
Fabry path
Lysosomal storage birefringent lipids
66
Gaucher enzyme
Glucocerebrosidase, lysosomal
| gaU -- glU
67
Gaucher 1 sx, tx
No early CNS sx, poss parkinsons elderly
HSM w/ anemia, skeletal prob, pulmonary infiltrates
Tx w/ enzyme replacement
68
Gaucher 2 age, sx
Onset <2, death 2-4yo
Spastic, delayed, oculomotor abnl
HSM, hydrops fetalis, cutaneous abnl
69
Gaucher 3 age, sx
After 2yo with slower progression
Psychomotor deterioration, spastic, ataxia, oculomotor, HSM
Tx w/ BMT
70
Tay Sachs category, enzyme
```
GM2 gangliosidosis
hexosaminidase A (Tay SachX)
```
71
Tay Sachs age, sx
Onset 3-6mo, death by 5
increased startle --> motor regress, spastic, optic atrophy, sz
Macrocephaly, severe ID
Cherry red spot macula
72
Sandhoff category, enzyme
GM2 gangliosidosis
| Hexosaminidase A&B
73
Sandhoff Sx
Like tay sachs (spastic, sz, macroceph, ID, optic atrophy)
| + HSM
74
Abetalipoproteinemia enzyme, function
Microsomal Triglyceride Transfer Protein (MTTP)
| --> fat malabsorption and lipid soluble vitamin def (esp E)
75
Abetalipoproteinemia sx
FTT, loose stools --> dvlp delay, ataxia, gait abnl, decreased proprioception and reflexes
Retinitis pigmentosa, nystagmus
76
Tangier gene, enzyme, function
ABCA1
ATP Cassette transporter protein
Cholesterol esters accum in various tissues
77
Tangier sx
Peripheral neuropathy, weakness (esp hands), poor DTR
| Lg orange tonsils, premature atherosclerosis
78
Tangier labs, path
Low HDL, low serum cholesterol
Elevated triglycerides
Foamy macrophages
79
Sialidosis enzyme
lysosomal alpha N-acetyl neuraminidase (sialidase)
80
Sialidosis type 1, 2 age, sx
1: adolescent/adult. Cherry red spot, myoclonus, visual deterioration
2: childhood. Above + severe neuro sx, psychomotor retard, coarse facial features, skeletal dystosis
81
Sialidosis neonatal sx
hydrops fetalis, nephrotic syndrome, early death
82
Sialidosis path
Vacuolated lymphocytes with membrane bound vacuoles
83
Neuronal Ceroid Lipofuscinosis sx
Myoclonus, blindness.
| Infant hypotonic, late infant involuntary mvts, juvenile focal deficits, adult facial dyskinesias and no blindness
84
Neuronal Ceroid Lipofuscinosis path
fingrprint bodies, rectilinear/curvilinear bodies
85
Krabbe enzyme
Beta galactocerebrosidase
| kraBBe -- Beta
86
Krabbe sx
spastic, vision loss (optic atrophy), cog impair
microcephaly
Infant with opisthotonus and low grade fevers
Adult with normal cognition
87
Krabbe imaging
Periventricular WM abnormalities (T2 bright) - sparing U fibers
88
Metachromatic Leukodystrophy enzyme
lysosomal arylsulfatase A
89
Metachromatic Leukodystrophy classic sx
hypotonic with falls --> UMN/LMN sx, loss vision/hearing --> coma/death
90
Metachromatic Leukodystrophy adult sx
slurred speech, psych probs, hallucinations/delusions --> rigid, tremors, weak, brisk reflexes, dementia
91
Metachromatic Leukodystrophy imaging
diffuse periventricular and subcortical hyperintensity sparing U fibers
Tigroid stripes axial (sparing venules)
92
Canavan enzyme
aspartoacylase
93
Canavan age, sx
start 10wk-4mo, death in 2nd decade
| Poor fixation/tracking, dvlp regression with no sitting --> megalencephaly, spasticity
94
Canavan MRI
diffuse symmetric T1 hypo/T2 hyperintensity WM, involves U fibers
95
Pelizaeus-Merzbacher gene, dysfunction
PLP1, hypomyelinating leukodystrophy
96
Pelizaeus-Merzbacher sx
Nodding head mvt, pendular nystagmus. Abnormal movements with spasticity. Laryngeal stridor
--> sz, optic atrophy
97
Pelizaeus-Merzbacher MRI
Near absent myelination (looks like newborn brain)
98
Adrenoleukodystrophy inheritance, gene, function
X-linked
ABCD1
Peroxisomal membrane transport --> accum VLCFA
99
Adrenoleukodystrophy classic/childhood age, sx
start 4-8yo
Behavior change --> spastic, gait prob, bulbar prob
+ adrenal insufficiency
100
Adrenoleukodystrophy - adrenomyeloneuropathy age, sx
Most common form, starts after 20yo
Slow progressive paraparesis and sensory neuropathy
Adrenal insuff
Sexual dysfunction, poor sphincter control
101
Adrenoleukodystrophy MRI
Occipital/pariteal confluent T2 hyperintensities with rim enhancement
102
Adrenoleukodystrophy labs
elevated VLCFA, ACTH
103
Alexander inheritance, gene
AD
| GFAP
104
Alexander sx
Megalencephaly, sz, progressive spastic quadriparesis
| Death in childhood
105
Alexander imaging
Frontal T2 hyperintensities
106
Alexander path
rosenthal fibers
