Metabolic Disorders

Front 1

Another name of Alkaptonuria?

Back 1

Ochronosis

Front 2

Defect in Alkaptonuria?

Back 2

homogentisic acid oxidase deficiency

(in the degradative pathway of tyrosine and phenylalanine

homogentisate 1,2-dioxygenase converts homogentisic acid to maleylacetoacetic acid)

Front 3

findings in Alkaptonuria?

Back 3

dark connective tissue
pigmented sclera
urine turns black on standing
debilitating arghralgias

Front 4

inheritance pattern of alkaptonuria?

Back 4

autosomal recessive, benign disease

Front 5

deficiency that causes albinism?

Back 5

Tyrosinase (inability to synthesize melanin from tyrosine)

Defective tyrosine transporters

Front 6

Only glycogen storage disease that causes early clinical findings in the heart specifically?

Back 6

Pompe disease.

Front 7

Only glycogen storage disease caused by a defective lysosomal enzyme?

Back 7

Pompe disease.

Front 8

What are gangliosides made up of?

Back 8

glycosphingolipid (ceramide + oligosaccharide)

+ sialic acid (one or more)

Front 9

Fabry's disease findings?

Back 9

Peripheral neuropathy of hands/feet
angiokeratomas
cardiovascular/renal disease

Front 10

Fabry's disease deficient enzyme?

Back 10

serum trihexosidase (α-galactosidase A)

Front 11

What substrate accumulates in Fabry's disease?

Back 11

Ceramide trihexoside

Front 12

Fabry's disease is what kind of disorder?

Back 12

Sphingolipidosis lysosomal storage disorder

Front 13

Fabry's disease mode of inheritance?

Back 13

X-linked recessive

Front 14

What type of disorder is Gaucher's disease?

Back 14

glucocerebrosidase lysosomal storage disorder

Front 15

what is the most common lysosomal storage disease?

Back 15

Gaucher's disease

Front 16

Gaucher's disease findings?

Back 16

Hepatosplenomegaly
aseptic necrosis of femur
bone crises
Gaucher's cells (macrophages that look like crumpled tissue paper)
X-ray demonstrates an Erlenmeyer-flask appearance of the long bones.

Front 17

What enzyme is deficient in Gaucher's disease?

Back 17

β-glucocerebrosidase

Front 18

What substrate accumulates in gaucher's disease?

Back 18

Glucocerebroside

Front 19

Gaucher's disease mode of inheritance?

Back 19

Autosomal recessive

Front 20

what type of disorder is Niemann-Pick disease?

Back 20

Sphingolipidosis lysosomal storage disease

Front 21

Identify this cell.

Back 21

Gaucher cell

Front 22

identify this cell.

Back 22

Niemann-Pick histiocyte.

Front 23

Nieman-Pick findings?

Back 23

Progressive neurodegeneration
hepatosplenomegaly
cherry-red spot on macula
foam cells

Front 24

Niemann-Pick deficient enzyme?

Back 24

Sphingomyelinase

Front 25

Niemann-Pick Accumulated substrate?

Back 25

Sphingomyelin

Front 26

Niemann-Pick mode of inheritance?

Back 26

Autosomal recessive

Front 27

What type of disorder is Tay-Sachs disease?

Back 27

Sphingolipidosis lysosomal storage disease

Front 28

Tay-Sachs disease findings?

Back 28

Progressive neurodegeneration
developmental delay
cehrry-red spot on macula
lysosomes with onion skin
no hepatosplenomegaly

Front 29

Deficient enzyme in Sandhoff disease and Tay-Sachs?

Back 29

Hexosaminidase A

Front 30

Accumulated substrate in Tay-Sachs disease?

Back 30

GM2 ganglioside

Front 31

mode of inheritance of Tay-Sachs disease?

Back 31

Autosomal recessive

Front 32

What type of disorder is Krabbe's disease?

Back 32

Sphingolipidosis lysosomal storage disease

Front 33

Krabbe's disease findings?

Back 33

Peripheral neuropathy
developmental delay
optic atrophy
globoid cells

Front 34

deficient enzyme in Krabbe's disease?

Back 34

Galactocerebrosidase

Front 35

Accumulated substrate in Krabbe's disease

Back 35

Galactocerebroside

Front 36

mode of inheritance of Krabbe's disease?

Back 36

autosomal recessive

Front 37

What type of disorder is Metachromatic leukodystrophy?

Back 37

Sphingolipidosis lysosomal storage disease

Front 38

metachromatic leukodystrophy findings?

Back 38

Central and peripheral demyelination with ataxia
dementia

Front 39

deficient enzyme in metachromatic leukodystrophy?

Back 39

Arylsulfatase A

Front 40

accumulated substrate in Metachromatic leukodystrophy?

Back 40

Cerebroside sulfate

Front 41

mode of inheritance in metachromatic leukodystrophy?

Back 41

autosomal recessive

Front 42

What type of disorder is Hurler's syndrome?

Back 42

Mucopolysaccharidosis lysosomal storage disorder

Front 43

Hurler's syndrome findings?

Back 43

Developmental delay
gargoylism
airway
obstruction
corneal clouding
hepatosplenomegaly

Front 44

deficient enzyme in Hurler's syndrome?

Back 44

α-L-iduronidase

Front 45

accumulated substrate in Hurler's syndrome?

Back 45

Heparan sulfate,
dermatan sulfate

Front 46

mode of inheritance in Hurler's syndrome?

Back 46

autosomal recessive

Front 47

What type of disorder is Hunter's syndrome?

Back 47

Mucopolysaccharidosis lysosomal storage disease

Front 48

Hunter's syndrome findings?

Back 48

Mild Hurler's + aggressive behavior
no corneal clouding

Front 49

deficient enzyme in Hunter's syndrome?

Back 49

Iduronate sulfatase

Front 50

Accumulated substrate in Hunter's syndrome?

Back 50

Heparan sulfate,
dermatan sulfate

Front 51

mode of inheritance of Hunter's syndrome?

Back 51

X-llinked recessive

Front 52

Findings in von Gierke's disease?

Back 52

Severe fasting hypoglycemia
↑↑ glycogen in liver
↑ blood lactate
hepatomegaly

Front 53

deficient enzyme in von Gierke's disease?

Back 53

Glucose-6-phosphatase

Front 54

von Gierke's disease is what type of disorder?

Back 54

Type I glycogen storage disease.

Front 55

Pompe's disease is what type of disorder?

Back 55

Type II glycogen storage disease.

Front 56

Findings in Pompe's disease?

Back 56

Cardiomegaly (can be in neonate)
systemic findings leading to early death

Front 57

What glycogen storage disease is the only one to cause early clinical findings in the heart specifically?

Back 57

Pompe disease, type II

Front 58

What is seen on muscle biopsy in Pompe's disease?

Back 58

PAS-positive intracellular granules.

Front 59

Which glycogen storage disease is caused by a defective lysosomal enzyme?

Back 59

Pompe disease.

Lysosomal α-1,4-glucosidase (acid maltase)

Front 60

What type of disorder is Cori's disease?

Back 60

Type III glycogen storage disease

Front 61

Findings in Cori's disease?

Back 61

milder form of type I
normal blood lactate levels

Front 62

What is the most prominent feature in Pompe's disease?

Back 62

cardiomegaly

Front 63

Deficient enzyme in Cori's disease?

Back 63

Debranching enzyme

(α-1,6-glucosidase)

Front 64

What type of disorder is McArdle's disease?

Back 64

Type V glycogen storage disorder.

Front 65

Findings in McArdle's disease?

Back 65

↑ glycogen in muscle
inability to break down glycogen
painful cramps, myoglobinuria with exercise

Front 66

Deficient enzyme in McArdle's disease?

Back 66

Skeletal muscle glycogen phosphorylase

(Hers disease is a deficiency of the liver isoform)

Front 67

Deficiency that causes phenylketonuria?

Back 67

Phenylalanine hydroxylase deficiency

Front 68

Deficiency that causes histidinemia?

Back 68

I-histidine ammonia-lyase deficiency

Front 69

Deficiency that causes maple syrup urine disease?

Back 69

Ketoacid decarboxylase deficiency

Front 70

Deficiency that causes isovaleric acidemia?

Back 70

Isovaleryl-CoA dehydrogenase deficiency

Front 71

juvenile metachromatic leukodystrophy deficiency?

Back 71

sulfatase A deficiency