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Citow - Pathology and Radiology > Congenital Metobolic Diseases > Flashcards

Congenital Metobolic Diseases Flashcards

1
Q

What is the most common aminoacidopathy?

A

phenyketonuria

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2
Q

What is the inheritance of phenylketonuria?

A

AR

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3
Q

What are hallmark exam findings in PKU? How is it treated?

A

fair skinned blue eyed kid with musty odor

limit phenylalanine consumption

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4
Q

The aminoacidopathies are generally inherited in _____ fashion.

A

AR

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5
Q

What is the inheritance of homocystinuria?

A

AR

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6
Q

What is the deficient enzyme in PKU?

A

phenylalanine hydroxylase

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7
Q

What is the deficient enzyme in homocystinuria?

A

cystathionine B-synthase

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8
Q

What is the symptomatology of homocystinuiria?

A

similar to Marfan’s syndrome, but with mental retardation and increased incidence of stroke, lens dislocations, and arachnodactyly

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9
Q

What is a key finding in maple syrup urine disease?

A

burned sugar smell in the urine

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10
Q

What’s the inheritance of maple syrup urine disease?

A

AR

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11
Q

What is the deficient enzyme in maple syrup urine disease?

A

branched chain a-keto acid dehydrogenase

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12
Q

What is Hartnup disease?

A

aminoacidopathy, cannot absorb neutral amino acids

develop Niacin deficiency with pellegra like symptoms

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13
Q

The sphingolipidoses are inherited in ______ fashion except for ____, which is _____.

A

AR

Fabry, XR

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14
Q

What enzyme is deficient and what accumulates:

Nieman Pick

A

Sphingomyelinase

Sphingomyelin

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15
Q

What enzyme is deficient and what accumulates:

Gaucher

A

Glucocerebrosidase

Glucocerebreside

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16
Q

What enzyme is deficient and what accumulates:

Fabry

A

a-galactosidase

ceramides

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17
Q

What enzyme is deficient and what accumulates:

Tay Sachs

A

Hexosaminadase A

GM2 gangliosides

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18
Q

What enzyme is deficient and what accumulates:

Sandhoff

A

Hexosaminidase A and B

GM2 gangliosides

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19
Q

What enzyme is deficient and what accumulates:

GM1 gangliosidosis

A

B-galactosidase

GM1 gangliosides

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20
Q

Which sphingolipidoses cause cherry red spots?

A

Niemann Pick
Tay Sachs
GM1 Gangliosidosis
Gaucher

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21
Q

Which sphingolipidoses affect Ashkenazi Jews?

A

Niemann Pick

Tay Sachs

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22
Q

What are key findings in Niemann Pick?

A

cherry red spot, vertical gaze palsy, MR, hepatosplenomegaly

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23
Q

What are Niemann Pick cells?

A

foamy cells; large vacuolated histiocytes and lymphocytes

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24
Q

What is the most frequent sphingolipidosis?

A

Gaucher

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25
Q

What are Gaucher cells?

A

wrinkled tissue paper appearing cells

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26
Q

What are key findings in Gaucher disease?

A

hypersplenism with anemia and thrombocytopenia

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27
Q

What are key findings in Fabry disease?

A

painful dysesthesias, vascular disease (Htn, renal, death by MI or stroke in adulthood)

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28
Q

What are key findings in Tay Sachs disease?

A

MACROcephaly, cherry red spot (NO organomegaly)

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29
Q

What are clinical findings in Sandhoff disease?

A

similar to tay sachs but has visceral storage

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30
Q

What are key findings in GM1 gangliosidase?

A

dysmorphic face, cherry red spot, hepatosplenomegaly, bone abnormalities

31
Q

Mucopolysaccharidoses are all _______ inheritance except _____ which is _____.

A

AR

Hunter, XR

32
Q

What is the enzyme deficiency and urine sulfate metabolite for the following:

Hurler

A

a-L-iduronidase

Heparan and dermatan

33
Q

What is the enzyme deficiency and urine sulfate metabolite for the following:

Scheie

A

a-L-iduronidase

Heparan and dermatan

34
Q

What is the enzyme deficiency and urine sulfate metabolite for the following:

Hunter

A

iduronidase sulfatase

Heparan and dermatan

35
Q

What is the enzyme deficiency and urine sulfate metabolite for the following:

San filippo

A

Sulfamidase

Heparan

36
Q

What is the enzyme deficiency and urine sulfate metabolite for the following:

Morquio

A

B galactosidase

Keratin

37
Q

What is the enzyme deficiency and urine sulfate metabolite for the following:

Maroteaux Lamy

A

Sulfatase B

Dermatan

38
Q

What is the enzyme deficiency and urine sulfate metabolite for the following:

Sly

A

B-glucoronidase

Heparan and Dermatan

39
Q

What are key features of Hurler’s disease?

A

gargoyle face, MR, dwarfism, corneal clouding, skeletal abnormalities, thick meninges (can cause spinal cord compression)

40
Q

What are Zebra bodies?

A

seen on electron microscopy with Hurler’s disease

41
Q

What are key features of Scheie?

A

milder Hurler, no MR

42
Q

What are key features of Hunter?

A

milder Hurlery, no MR and less corneal clouding; classic skin pebbling and peripheral nerve entrapment (Carpel tunnel)

43
Q

Which MPS has the most severe skeletal deformities and ligamentous laxity?

A

Morquio

44
Q

Which MPS can have carpel tunnel syndrome?

A

Hunter, Scheie, Maroteaux Lamy

45
Q

Which MPS classically has hydrocephalus?

A

Sly

46
Q

The leukodystrophies are all _____ inheritance except for _____ which are ____ and _____ which is ____.

A

AR

Adrenoleukodystrophy and Pelizaeus-Merzbacher, XR

Alexander, sporadic

47
Q

Which leukodystrophy is associated with Ashkenazi Jews?

A

Canavan

48
Q

What is the enzyme deficiency and what accumulates:

Krabbe

A

galactocerebroside β-galactosidase

galactocerebroside

49
Q

What is the enzyme deficiency and what accumulates:

Metachromatic leukodystrophy

A

arylsulfatase A

sulfatides

50
Q

What is the enzyme deficiency and what accumulates:

Adrenoleukodystrophy?

A

ABCD 1

long chain fatty acids

51
Q

Leukodystrophies have cavitation or degeneration of ______ but spare _____ except for ______ which preferentially targets them.

A

white matter

subcortical U fibers

Canavan

52
Q

Which leukodystrophy is associated with adrenal insufficiency and bronze skin?

A

adrenoleukodystrophy

53
Q

What CT finding is unique to Krabbe disease?

A

hyperdense basal ganglia and thalamus

54
Q

What is seen on histology for Krabbe disease?

A

Globoid cells; large macrophages around blood vessels

55
Q

What is the treatment in adrenoleukodystrophy?

A

Lorenzo oil and diet low in long chain fatty acids

56
Q

Which leukodystrophy has a Tigeroid pattern on MRI?

A

Pelizaeus Merzbacher

57
Q

Alzheimer type II astrocytes are seen in what leukodystrophy?

A

Canavan

58
Q

What are the key clinical features of MELAS?

A

encephalopathy, lacitc acidosis, stroke like episodes with cortical blindnesss

59
Q

What are the key clinical features with MERRF?

A

myoclonic epilepsy with ragged red fibers on muscle biopsy

60
Q

How is Kearns Sayre syndrome inherited?

A

mitochondrial

61
Q

Which mitochondrial diseases have ragged red fibers on muscle biopsy?

A

MERRF and Kearns Sayre

62
Q

What are key clinical findings in Kearns Sayre?

A

cardiomyopathy and ophthalmoplegia/retinal issues

63
Q

What is the inheritance of Lebers hereditary optic neuropathy?

A

mitochondrial

64
Q

What are the key clinical findings in levers hereditary optic neuropathy?

A

progressive painless loss of central visiosn

65
Q

What is the inheritance of Menke Kinky hair disease?

A

XR

66
Q

Menke kinky hair disease is due to a defect in ____ causing decrease in _____.

A

Copper transporting ATPase

GI absorption of copper

67
Q

What are the key clinical features of Menke Kinky hair disease?

A

tortuous vessels, metaphysial spurring, brittle colorless hair growth, seizures, MR

68
Q

What is the inheritance of Leigh disease?

A

AR

69
Q

What is the deficient enzyme in leigh disease?

A

cytochrome C oxidase

70
Q

Leigh disease results in ______ leading to diffuse neurologic deficits such as _____.

A

bilateral symmetric spongiform degeneration and necrosis of the thalamus, basal ganglia, brainstem, and spinal cord with peripheral nerve demyelination

decreased muscle tone and head control, seizures, myoclonus, ophthalmoplegia, and respiratory and swallowing problems

71
Q

What’s another name for Lowe syndrome? How is it inherited?

A

XR

oculocerebrorenal syndrome (cataracts, MR, death by renal failure)

72
Q

What is the inheritance of Lesch-nyhan syndrome? What is the deficient enzyme? What are its key clinical features?

A

XR

HGPRT

accumulation of uric acid leading to choreoathetosis and self mutilation

73
Q

What is Zellweger syndrome? What’s another name for it?

A

XR

Cererbrohepatorenal syndrome (cortical dysgensis, hepatorenal failure)

Citow - Pathology and Radiology (16 decks)

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