Medstudy Pediatrics > Metabolic > Flashcards

Metabolic Flashcards

(60 cards)

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1
Q

Which disease has chronic encephalopathy due to strokes

A

Homocysteinurea

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2
Q

Sx of biotinidase deficiency

A

Encephalopathy
Skin rash
Alopecia

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3
Q

Which disease has milky plasma?

A

GSD 1
Von gierke disease

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4
Q

Which diseases have ragged red fibers

A

CPEO and MERRF

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5
Q

Which disease has no rush on scapular and extensor surface?

A

Hunter

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6
Q

Corneal clouding and deafness

A

Hurler

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7
Q

Which disease has sweaty feet odor

A

Isovaleric acidemia

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8
Q

Which disease has mousy odor

A

PKU

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9
Q

Which disease has increased serum methionine

A

Homocystinuria

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10
Q

Lens in homoscystinuria

A

Downward displacement

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11
Q

Dx of Tyrosinemia

A

Elevated succinylacetone

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12
Q

Disease with increased glycine in CSF and hiccups

A

non ketotic hyperglycinemia

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13
Q

High ammonia and resp alkalosis

A

UCD

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14
Q

High glutamine and alanine

A

CPS

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15
Q

Which metabolic disease is associated with marfan habitus

A

Homocystinuria

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16
Q

Dx of galactosemia

A

Positive urine reducing substance

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17
Q

Dystonia
Chorioathetosis
Macrocephaly
Wide opercula

A

Glutatic acidemia 1

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18
Q

Which mucopolysaccharidoses is associated with dementia and behavioral problems

A

Sanflippo syndrome

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19
Q

Which type if gaucher has no CNS involvement

A

Type 1

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20
Q

Features of Zelleeger spectrum

A

Liver disease
Renal cyst
Retinitis pigmentosa

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21
Q

Which diseases have enzyme replacement?

A

Gaucher
Fabry
MPS

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22
Q
A
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23
Q

Renal failure and cardiomyopathy
Associated with which metabolic disease?

A

MMA

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24
Q
A
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25
Which metabolic disease presents with subdural hematoma and retinal hemorrhage
Glutiric acidemia 1
26
Which metabolic disease presents with subdural hematoma and retinal hemorrhage
Glutiric acidemia 1
27
RTA 1 associated with which metabolic disease
Tyrosinemia
28
Which group of diseases has elevated ammonia
29
Which disease has Cerebellar ataxia, epilepsy, and ragged red fiber myopathy
MERRF
30
Which disease has ptosis, ophthalmoplegia, and ragged red fiber myopathy?
CPEO
31
Which disorder has lactic acidosis, encephalopathy, and stroke like episodes?
MELAS
32
Which syndrome has acute necrotizing encephalopathy ?
Leigh syndrome
33
Which syndrome has cholestatic liver disease, and retinopathy
LCHAD
34
Pompe disease labs
Lysosomal storage disease : Elevated CK, AST, and LDH Muscle biopsy
35
Which group of diseases has HAGMA and high ammonia
Organic acidemia
36
37
Which metabolic disease has bone marrow suppression?
PPA
38
Which metabolic disease has low platelets?
MMA
39
Which disease has elevated methylcitric acid?
PPA
40
Which group of metabolic diseases have neurropenia?
Organic acidemia
41
High urine orotic acid is seen in :
OTC
42
43
Pompe disease features
Hepatomegaly Cardiomegaly
44
Galactosemia complication
E coli sepsis Ovarian failure
45
Healthy infant until juices introduced
Fructose 1,6 diphophatase deficiency
46
High ammonia with high anion gap disease group
Organic acidemia
47
Which disease would have the highest ammonia level?
UCD
48
Child normal until prolonged fasting with hypoglycemia and high ammonia
MCAD
49
Which MPS is XLR
Hunter
50
Which MPS doesn’t have mental retardation
Morquio
51
Which metabolic disease has very large spleen?
Gaucher
52
Which metabolic disease has very large spleen?
Gaucher
53
HSM, cataplexy and narcolepsy, vertical gaze palsy
Niemann pick
54
Easy startle, cherry red spots, seizure
Tay sachs
55
Hypohydrosis, corneal opacities
Fabry
56
Metabolic disease present with quadreplagia and blindness
Krabbe
57
Which metabolic disease presents with calcification of adrenal glands
Wolman
58
Porphyria tarda can be due to
Alcohol Iron Estrogen
59
Acute intermittent porphyria trigger
Antiepileptic medication
60
Which disease has high methionine
Homocystinurea

Medstudy Pediatrics (15 decks)

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