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Flashcards in Metab, Misc + CDB Deck (152):
1

T/F infant galactosemia is a contraindication to breast feeding

T

2

Alternative to breast milk if the infant has galactosemia

Soy protein based formula

3

Classic Galactosemia is due to absence of

Galactose-1-phosphate uridyltransferase
Others: Galactokinase, uridine diphosphate galactose-4-epimerase

4

Jaundice, hepatomegaly, and positive urinary-reducing substance; infant

Galactosemia

5

Mode of inheritance of Galactosemia

Autosomal recessive

6

Galactosemia, SIGNS AND SYMPTOMS

Cataracts, hepatosplenomegaly, mental retardation

7

Galactosemia, TREATMENT

Exclude galactose and lactose from diet

8

Organs particularly damaged in galactosemia if not diagnosed at birth

Liver, brain, kidney

9

Neonates with galactosemia are at increased risk for ___ sepsis

Escherichia coli

10

T/F Elimination of galactose from diet in galactosemia does not ensure reversal of cataract formation.

T

11

In G6PD deficiency, symptoms develop ___ days after exposure to substance with oxidising properties

1-2

12

Heinz bodies

G6PD deficiency; thalassemia

13

Mode of inheritance of G6PD deficiency

X-LINKED RECESSIVE

14

Causes fulminant infection in glucose-6-phosphate dehydrogenase (G6PD) deficiency

Rocky Mountain spotted fever

15

RBC seen in G6PD

Schistocyte

16

Enzyme defect of hexose monophosophate (HMP) pathway resulting in hemolysis when exposed to stresses such as infection or certain drugs

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

17

Role of G6PD in RBCs

Normally maintains adequate level of glutathione in a reduced state

18

In G6PD deficiency, oxidized glutathione complexes with Hgb (denatured hgb, forming ___

Heinz bodies

19

G6PD makes RBCs ___ hence, easily undergoes lysis

Less deformable

20

Most common hemolytic enzymopathy

G6PD deficiency

21

Fava beans

G6PD deficiency

22

Bite cells on peripheral smear

G6PD deficiency

23

How to treat G6PD def in newborns

Reduce oxidative stress and specialized diets

24

T/F G6PD may cause jaundice even without anemia

T, via gene interaction with the promoter variant of the gene for UDPGT causing a deficiency similar to Gilbert's disease

25

Basic defect in PKU

1) Phenylalanine hydroxylase OR2) Tetrahydrobiopterin (cofactor of phenylalanine hydroxylase)

26

Phenylalanine hydroxylase is responsible for what chemical reaction

Phenylalanine to tyrosine

27

Fate of excess phenylalanine in PKU

1) Transaminated to phenylpyruvate2) Decarboxylated to phenylethylamine

28

Best time to test for PKU

48-72 hours after birth (FIRST AID: after initiation of first protein feed); may be negative prior

29

T/F Patients with PKU appear normal at birth

T

30

Postnatal test for PKU

Guthrie test

31

Fair hair and skin, blue AR eyes, mousy odor

PKU

32

Prenatal testing for PKU

DNA probe

33

Ectopia lentis, marfanoid body habitus

Homocystinemia/ Homocystinuria

34

Homocystinemia/-uria: Accumulation of

Homocystine, methionine (because homocysteine is not remethylated to methionine)

35

Homocystinemia/-uria: Deficiency of

Cystathionine synthase

36

Maple syrup urine disease: Accumulation of

Branched-chain amino acids: leucine, isoleucine, valine (LIV) [Think MAPLE tree, tree of LIVe, has BRANCHes]

37

Maple syrup urine disease: Deficiency of

Branched-chain ketoacid dehydrogenase (decarboxylation of branched chain amino acids)

38

Maple syrup urine disease: Distinctive feature

Odor of maple syrup/caramel in urine, sweat, cerumen

39

Deficiency of neutral amino acids: tryptophan

Hartnup’s disease

40

Hartnup’s disease: Deficiency of

Sodium-dependent amino acid transport system in renal tubules and intestines

41

T/F Most patients with Hartnup disease are asymptomatic

T

42

Common inheritance of disorders of amino acid metabolism

AR

43

Food product that contains phenylalanine

Aspartame (Nutrasweet) contains phenylalanine

44

Treatment for PKU

Limit dietary phenylalanine (e.g., in artificial sweeteners) and increase tyrosine (in the first 16 years of life); oral administration of tetrahydrobiopterin

45

Decreased pigmentation in PKU is secondary to

Inhibition of tyrosinase by phenylalanine

46

Disorders of phenylalanine and tyrosine metabolism

PKU, Richner-Hanhart, Homogentisic acid, Albinism

47

Black diaper/urine

Alkaptonuria

48

Deficient in alkaptonuria

Homogentisic acid oxidase

49

Deficient in albinism

Tyrosinase/tyrosine hydroxylase

50

Subluxation of the lens, signaled by iridodonesis (quivering of iris) and myopia

Ectopia lentis

51

If homocystinuria is not diagnosed at birth, diagnosis is usually made after ___

3 years of age

52

Treatment for homocystinuria

High-dose vitamin B6

53

Most common inborn error of methionine metabolism

Homocystinuria

54

D/O of amino acid metabolism that looks like tetanus (muscular rigidity + opisthotonus)

MSUD

55

Which among the branched chain amino acids has a higher plasma level than the rest of the accumulating substances

Leucine

56

Poor feeding, vomiting in first week of life, proceeding to lethargy and coma

MSUD

57

Amino acid decreased in MSUD

Alanine

58

Urine precipitant test

MSUD

59

􏱄 Aminoaciduria (neutral: alanine, serine, threonine, valine, leucine, isoleucine, phenylalanine, tyrosine, tryptophan, histidine)􏱄 Normal plasma amino acid levels

Hartnup disease

60

Hartnup disease treatment

Nicotinic acid/nicotinamide and a high-protein diet in symptomatic patients

61

Deficiency of FAH

Tyrosinemia type I

62

Deficiency of TAT

Tyrosinemia type II

63

Deficiency of 4-HPPD

Tyrosinemia type III

64

Sweaty feet, acrid, ripe cheese odor

Isovaleric acidemia

65

Boiled cabbage, rancid butter odor

Tyrosinemia

66

Tomcat urine

Multiple carboxylase deficiency

67

Rotten fish odor

Trimethylaminuria

68

Glut-Val

Sickle cell anemia

69

Disorders of very long chain fatty acids

Peroxisomal disorders (Zellweger, infantile refsum disease, adrenoleukodystrophy)

70

Zellweger syndrome: Deficiency

Pipecolate oxidase

71

Infantile Refsum Disease: Deficiency

Phytanic acid

72

Smith-Lemli-Opitz Syndrome (SLOS): Deficiency

7-dehydrocholesterol reductase

73

Smith-Lemli-Opitz Syndrome (SLOS): Distinguishing feature

Syndactyly between 2nd and 3rd toes

74

Smith-Lemli-Opitz Syndrome (SLOS): Mutation in

Delta-7-reductase gene (DHCR7)

75

Lysosomal storage disease; results in accumulation of GM2ganglioside in brain; normal until 3-6 months old; cherry red spot on macula but *NO hepatosplenomegaly*; Hyperacusis; Froglike position

Tay-Sach disease

76

Tay-Sach disease, deficiency

Hexoaminidase A (tay-saX lacks heXosaminidase)

77

Lysosomal storage disease; Accumulation of GM2 ganglioside in brain and peripheral organs

Sandhoff

78

Sandhoff disease, defect

Hexosaminidases A + B

79

Distinguishes Tay-Sachs from Sandhoff

(+) heptaosplenomegaly in Sandhoff

80

Lysosomal storage disease; accumulation of glucocerebroside in reticuloendothelial system

Gaucher disease

81

Deficiency in Gaucher

β-glucosidase (a glucocerebrosidase)

82

Gaucher, characteristic cells

Gaucher cells: Histiocytes in bone marrow, liver, and spleen with crinkled/crumpled paper cytoplasm

83

Gaucher is more common in, infants vs adults

Adults

84

Lysosomal storage disease; accumulation of sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells; 50% cherry red spot on macula, hepatosplenomegaly

Niemann–Pick

85

Niemann–Pick, deficiency

Sphingomyelinase [No man PICKs his nose with his SPHINGer]

86

Niemann–Pick: Diagnosis by 4 months, death by ___ of age

3 years

87

Characteristic cells of Niemann-Pick

Vacuolated histiocytes (foam cells) in bone marrow

88

The only X-linked recessive lysosomal storage disease; most are AR

Fabry disease

89

Lysosomal storage disease; normal at birth, diagnosis at 1 year; nodules (granulomas containing ceramide) on joints, subcutaneous tissue, and vocal cords (hoarseness, respiratory complications)

Farber disease/Lipogranulomatosis

90

Farber, deficiency

Ceramidase

91

Dark, red, punctate macules that do not blanch, occur in clusters, some become papules, distribution in bilateral and symmetric, naval and buttocks most common

Angiokeratomas

92

Lysosomal storage dse; angiokeratomas, progressive kidney failure, severe neuropathic limb pain, ocular opacities due to accumulation of glycosphingolipids in vascular endothelium, nerves, and organs

Fabry

93

Fabry, deficiency

Ceramide trihexosidase or α-galactosidase A

94

Progressive CNS degenration and death by 3 yo; globoid cells in areas of demyelination; accumulation of ceramide galactose within lysosomes of brain white matter; generalised rigidity, loss of head control, diminished alertness

Krabbe (globoid cell leukodystrophy)

95

Krabbe, deficiency

Galactosyl-ceramide β-galactosidase or galactocerebrosidase

96

Gangliosidoses

GM1, GM2 (Tay-Sachs, Sandhoff)

97

Differentiates Tay-Sachs from the rest of the GMs

No hepatosplenomegaly

98

Pili torti

Menkes disease

99

Menke disease, deficiency

Copper-dependent enzymes

100

Deficiency of copper-dependent enzymes is also seen in

Wilson disease

101

(+) urine sulfatide test with front-occipital demyelination

Metachromatic leukodystrophy (MLD)

102

Defect in metachromatic leukodystrophy (MLD)

Arylsulfatase A deficiency

103

Amino acid deficiency that resembles pellagra

Hartnup disease (niacin is from tryptophan)

104

Attacks of Hartnup disease are triggered by

Sunlight, emotional stress, sulfonamides

105

Chromosome involved in Refsum disease

6

106

Mucopolysaccharidoses

Hurler, Scheie, Hurler-Scheie, Hunter

107

Mucopolysaccharidoses: More severe form

Hurler

108

Mucopolysaccharidoses: Milder form

Hunter

109

Mucopolysaccharidoses: X-linked

Hunter

110

Mucopolysaccharidoses: Milder form of Hurler

Scheie

111

Enzyme deficiency in Hurler, Scheie, and Hurler-Scheie disease

α-L-iduronidase

112

Enzyme deficiency in Hunter disease

Iduronate sulfatase

113

Inherited deficiencies of lysosomal enzymes needed for the degradation of glycosaminoglycans (GAGs) resulting in widespread lysosomal storage of dermatan and heparan sulfates

Mucopolysaccharidoses

114

GAGs accumulated in mucupolysaccharidoses

Dermatan sulfate and Heparan sulfate (both also stored in Sly)

115

Corneal clouding, mental retardation, gargoylism

Hurler

116

Corneal clouding, normal intelligence

Scheie

117

Mild mental retardation, no corneal clouding

Hunter

118

Characteristic cells of mucopolysaccharidoses

“Gargoyle”cells containing lysosomes engorged with mucopolysaccharide

119

Stored GAG in Sanfilippo A-D

Heparan sulfate

120

Mucopolysaccharidoses with stored keratin sulfate

Morquio A and V

121

Mucopolysaccharidoseswith only derma tan sulfate as stored GAG

Maroteaux-Lamy

122

Glycogen storage diseases

Very Poor CArbohydrate Metabolism
I- Von Gierke
II- Pompei
III- Cori
IV- Andersen
V- McArdle

123

Glycogen Accumulation: Liver, kidney, and intestine

Von Gierke [Ist boyfriend is a GIERKE, who flattered (MASSIVE HEPATOMEGALY) the girl with DOLL-LIKE FACIES AND FAT CHEEKS by giving her FAVA beans]

124

Glycogen Accumulation: Skeletal muscle

McArdle

125

Glycogen Accumulation: Cardiac and skeletal muscle

Pompe

126

Von Gierke, deficiency

Glucose-6-phosphatase

127

McArdle, deficiency

Skeletal muscle glycogen phosphorylase

128

Pompe’s, deficiency

α-1,4-glucosidase (acid maltase)

129

Von Gierke, glycogen-to-glucose metabolism stops at ___

Glucose-6-phosphate

130

Von Gierke, distinguishing characteristics

Hypoglycemia, lactic acidosis, hepatomegaly

131

Hyperglycemia + lactic acidosis

DKA

132

Glucose > glucose 6 phosphate

Hexokinase

133

Glucose 6 phosphate > 6 phosphogluconate

G6PD

134

Glucose 6 phosphate > 6 phosphogluconate provides energy to produce

GSH from GSSG via glutathione reductase

135

Function of glutathione

Protects cells from hemolysis due to free radicals

136

Doll-like facies with fat cheeks

Von Gierke

137

Definitive diagnosis of G6PD deficiency

Liver biopsy

138

Meds known to exacerbate illness in G6Pd deficiency

Sulfonamides, antimalarials, fava beans

139

Sulfonamides and antimalarials are also contraindicated in patients with

Porphyria

140

Diagnosis of galactosemia

Reducing substance in urine

141

X-linked disorder of purine metabolism resulting in deposition of purines in tissues and subsequent clinical abnormalities

Lesch–Nyhan Syndrome

142

Lesch–Nyhan Syndrome, deficiency

Hypoxanthine–guanine phosphoribosyl transferase (HGPRT)

143

Retardation of motor development, spastic cerebral palsy, self-injurious behavior, extrapyramidal symptoms, tophi, gouty arthritis

Lesch–Nyhan Syndrome

144

Lesch–Nyhan Syndrome, diagnosis

Elevated serum uric acid levels; Definitiv - HGPRT analysis

145

Lesch–Nyhan Syndrome, treatment

Supportive therapy; Allopurinol to reduce serum uric acid levels; Prevention of self-injury

146

Highest concentration of HGPRT is found in

Basal ganglia

147

Rate limiting step in uric acid synthesis

Xanthine oxidase

148

Seen in gout when hyperuricemia affects big to joint

Podagra

149

Progressive external ophthalmoplegia involving all extra ocular muscles (frozen eye); and pigmentary degeneration of the retina (retinitis pigmentosa)

Kearns-Sayre Syndrome

150

Most frequent mitochondrial disease of the perinatal period and early infancy

Leigh Encephalopathy/Subacute Periventricular Necrotizing Encephalopathy (SPNE)

151

Idiopathic basal ganglia calcification in the young

Fahr syndrome

152

Treatment of Fahr syndrome

Steroids