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Pedia > Metab, Misc + CDB > Flashcards

Metab, Misc + CDB Flashcards

1
Q

T/F infant galactosemia is a contraindication to breast feeding

A

T

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2
Q

Alternative to breast milk if the infant has galactosemia

A

Soy protein based formula

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3
Q

Classic Galactosemia is due to absence of

A

Galactose-1-phosphate uridyltransferase

Others: Galactokinase, uridine diphosphate galactose-4-epimerase

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4
Q

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

A

Galactosemia

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5
Q

Mode of inheritance of Galactosemia

A

Autosomal recessive

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6
Q

Galactosemia, SIGNS AND SYMPTOMS

A

Cataracts, hepatosplenomegaly, mental retardation

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7
Q

Galactosemia, TREATMENT

A

Exclude galactose and lactose from diet

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8
Q

Organs particularly damaged in galactosemia if not diagnosed at birth

A

Liver, brain, kidney

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9
Q

Neonates with galactosemia are at increased risk for ___ sepsis

A

Escherichia coli

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10
Q

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

A

T

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11
Q

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

A

1-2

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12
Q

Heinz bodies

A

G6PD deficiency; thalassemia

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13
Q

Mode of inheritance of G6PD deficiency

A

X-LINKED RECESSIVE

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14
Q

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

A

Rocky Mountain spotted fever

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15
Q

RBC seen in G6PD

A

Schistocyte

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16
Q

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

A

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

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17
Q

Role of G6PD in RBCs

A

Normally maintains adequate level of glutathione in a reduced state

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18
Q

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

A

Heinz bodies

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19
Q

G6PD makes RBCs ___ hence, easily undergoes lysis

A

Less deformable

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20
Q

Most common hemolytic enzymopathy

A

G6PD deficiency

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21
Q

Fava beans

A

G6PD deficiency

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22
Q

Bite cells on peripheral smear

A

G6PD deficiency

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23
Q

How to treat G6PD def in newborns

A

Reduce oxidative stress and specialized diets

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24
Q

T/F G6PD may cause jaundice even without anemia

A

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

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25
Q

Basic defect in PKU

A

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

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26
Q

Phenylalanine hydroxylase is responsible for what chemical reaction

A

Phenylalanine to tyrosine

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27
Q

Fate of excess phenylalanine in PKU

A

1) Transaminated to phenylpyruvate2) Decarboxylated to phenylethylamine

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28
Q

Best time to test for PKU

A

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

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29
Q

T/F Patients with PKU appear normal at birth

A

T

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30
Q

Postnatal test for PKU

A

Guthrie test

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31
Q

Fair hair and skin, blue AR eyes, mousy odor

A

PKU

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32
Q

Prenatal testing for PKU

A

DNA probe

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33
Q

Ectopia lentis, marfanoid body habitus

A

Homocystinemia/ Homocystinuria

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34
Q

Homocystinemia/-uria: Accumulation of

A

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

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35
Q

Homocystinemia/-uria: Deficiency of

A

Cystathionine synthase

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36
Q

Maple syrup urine disease: Accumulation of

A

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

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37
Q

Maple syrup urine disease: Deficiency of

A

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

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38
Q

Maple syrup urine disease: Distinctive feature

A

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

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39
Q

Deficiency of neutral amino acids: tryptophan

A

Hartnup’s disease

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40
Q

Hartnup’s disease: Deficiency of

A

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

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41
Q

T/F Most patients with Hartnup disease are asymptomatic

A

T

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42
Q

Common inheritance of disorders of amino acid metabolism

A

AR

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43
Q

Food product that contains phenylalanine

A

Aspartame (Nutrasweet) contains phenylalanine

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44
Q

Treatment for PKU

A

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

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45
Q

Decreased pigmentation in PKU is secondary to

A

Inhibition of tyrosinase by phenylalanine

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46
Q

Disorders of phenylalanine and tyrosine metabolism

A

PKU, Richner-Hanhart, Homogentisic acid, Albinism

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47
Q

Black diaper/urine

A

Alkaptonuria

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48
Q

Deficient in alkaptonuria

A

Homogentisic acid oxidase

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49
Q

Deficient in albinism

A

Tyrosinase/tyrosine hydroxylase

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50
Q

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

A

Ectopia lentis

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51
Q

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

A

3 years of age

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52
Q

Treatment for homocystinuria

A

High-dose vitamin B6

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53
Q

Most common inborn error of methionine metabolism

A

Homocystinuria

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54
Q

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

A

MSUD

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55
Q

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

A

Leucine

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56
Q

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

A

MSUD

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57
Q

Amino acid decreased in MSUD

A

Alanine

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58
Q

Urine precipitant test

A

MSUD

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59
Q

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

A

Hartnup disease

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60
Q

Hartnup disease treatment

A

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

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61
Q

Deficiency of FAH

A

Tyrosinemia type I

62
Q

Deficiency of TAT

A

Tyrosinemia type II

63
Q

Deficiency of 4-HPPD

A

Tyrosinemia type III

64
Q

Sweaty feet, acrid, ripe cheese odor

A

Isovaleric acidemia

65
Q

Boiled cabbage, rancid butter odor

A

Tyrosinemia

66
Q

Tomcat urine

A

Multiple carboxylase deficiency

67
Q

Rotten fish odor

A

Trimethylaminuria

68
Q

Glut-Val

A

Sickle cell anemia

69
Q

Disorders of very long chain fatty acids

A

Peroxisomal disorders (Zellweger, infantile refsum disease, adrenoleukodystrophy)

70
Q

Zellweger syndrome: Deficiency

A

Pipecolate oxidase

71
Q

Infantile Refsum Disease: Deficiency

A

Phytanic acid

72
Q

Smith-Lemli-Opitz Syndrome (SLOS): Deficiency

A

7-dehydrocholesterol reductase

73
Q

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

A

Syndactyly between 2nd and 3rd toes

74
Q

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

A

Delta-7-reductase gene (DHCR7)

75
Q

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

A

Tay-Sach disease

76
Q

Tay-Sach disease, deficiency

A

Hexoaminidase A (tay-saX lacks heXosaminidase)

77
Q

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

A

Sandhoff

78
Q

Sandhoff disease, defect

A

Hexosaminidases A + B

79
Q

Distinguishes Tay-Sachs from Sandhoff

A

(+) heptaosplenomegaly in Sandhoff

80
Q

Lysosomal storage disease; accumulation of glucocerebroside in reticuloendothelial system

A

Gaucher disease

81
Q

Deficiency in Gaucher

A

β-glucosidase (a glucocerebrosidase)

82
Q

Gaucher, characteristic cells

A

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

83
Q

Gaucher is more common in, infants vs adults

A

Adults

84
Q

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

A

Niemann–Pick

85
Q

Niemann–Pick, deficiency

A

Sphingomyelinase [No man PICKs his nose with his SPHINGer]

86
Q

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

A

3 years

87
Q

Characteristic cells of Niemann-Pick

A

Vacuolated histiocytes (foam cells) in bone marrow

88
Q

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

A

Fabry disease

89
Q

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

A

Farber disease/Lipogranulomatosis

90
Q

Farber, deficiency

A

Ceramidase

91
Q

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

A

Angiokeratomas

92
Q

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

A

Fabry

93
Q

Fabry, deficiency

A

Ceramide trihexosidase or α-galactosidase A

94
Q

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

A

Krabbe (globoid cell leukodystrophy)

95
Q

Krabbe, deficiency

A

Galactosyl-ceramide β-galactosidase or galactocerebrosidase

96
Q

Gangliosidoses

A

GM1, GM2 (Tay-Sachs, Sandhoff)

97
Q

Differentiates Tay-Sachs from the rest of the GMs

A

No hepatosplenomegaly

98
Q

Pili torti

A

Menkes disease

99
Q

Menke disease, deficiency

A

Copper-dependent enzymes

100
Q

Deficiency of copper-dependent enzymes is also seen in

A

Wilson disease

101
Q

(+) urine sulfatide test with front-occipital demyelination

A

Metachromatic leukodystrophy (MLD)

102
Q

Defect in metachromatic leukodystrophy (MLD)

A

Arylsulfatase A deficiency

103
Q

Amino acid deficiency that resembles pellagra

A

Hartnup disease (niacin is from tryptophan)

104
Q

Attacks of Hartnup disease are triggered by

A

Sunlight, emotional stress, sulfonamides

105
Q

Chromosome involved in Refsum disease

A

6

106
Q

Mucopolysaccharidoses

A

Hurler, Scheie, Hurler-Scheie, Hunter

107
Q

Mucopolysaccharidoses: More severe form

A

Hurler

108
Q

Mucopolysaccharidoses: Milder form

A

Hunter

109
Q

Mucopolysaccharidoses: X-linked

A

Hunter

110
Q

Mucopolysaccharidoses: Milder form of Hurler

A

Scheie

111
Q

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

A

α-L-iduronidase

112
Q

Enzyme deficiency in Hunter disease

A

Iduronate sulfatase

113
Q

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

A

Mucopolysaccharidoses

114
Q

GAGs accumulated in mucupolysaccharidoses

A

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

115
Q

Corneal clouding, mental retardation, gargoylism

A

Hurler

116
Q

Corneal clouding, normal intelligence

A

Scheie

117
Q

Mild mental retardation, no corneal clouding

A

Hunter

118
Q

Characteristic cells of mucopolysaccharidoses

A

“Gargoyle”cells containing lysosomes engorged with mucopolysaccharide

119
Q

Stored GAG in Sanfilippo A-D

A

Heparan sulfate

120
Q

Mucopolysaccharidoses with stored keratin sulfate

A

Morquio A and V

121
Q

Mucopolysaccharidoseswith only derma tan sulfate as stored GAG

A

Maroteaux-Lamy

122
Q

Glycogen storage diseases

A 
Very Poor CArbohydrate Metabolism
I- Von Gierke
II- Pompei
III- Cori
IV- Andersen
V- McArdle
123
Q

Glycogen Accumulation: Liver, kidney, and intestine

A

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
Q

Glycogen Accumulation: Skeletal muscle

A

McArdle

125
Q

Glycogen Accumulation: Cardiac and skeletal muscle

A

Pompe

126
Q

Von Gierke, deficiency

A

Glucose-6-phosphatase

127
Q

McArdle, deficiency

A

Skeletal muscle glycogen phosphorylase

128
Q

Pompe’s, deficiency

A

α-1,4-glucosidase (acid maltase)

129
Q

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

A

Glucose-6-phosphate

130
Q

Von Gierke, distinguishing characteristics

A

Hypoglycemia, lactic acidosis, hepatomegaly

131
Q

Hyperglycemia + lactic acidosis

A

DKA

132
Q

Glucose > glucose 6 phosphate

A

Hexokinase

133
Q

Glucose 6 phosphate > 6 phosphogluconate

A

G6PD

134
Q

Glucose 6 phosphate > 6 phosphogluconate provides energy to produce

A

GSH from GSSG via glutathione reductase

135
Q

Function of glutathione

A

Protects cells from hemolysis due to free radicals

136
Q

Doll-like facies with fat cheeks

A

Von Gierke

137
Q

Definitive diagnosis of G6PD deficiency

A

Liver biopsy

138
Q

Meds known to exacerbate illness in G6Pd deficiency

A

Sulfonamides, antimalarials, fava beans

139
Q

Sulfonamides and antimalarials are also contraindicated in patients with

A

Porphyria

140
Q

Diagnosis of galactosemia

A

Reducing substance in urine

141
Q

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

A

Lesch–Nyhan Syndrome

142
Q

Lesch–Nyhan Syndrome, deficiency

A

Hypoxanthine–guanine phosphoribosyl transferase (HGPRT)

143
Q

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

A

Lesch–Nyhan Syndrome

144
Q

Lesch–Nyhan Syndrome, diagnosis

A

Elevated serum uric acid levels; Definitiv - HGPRT analysis

145
Q

Lesch–Nyhan Syndrome, treatment

A

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

146
Q

Highest concentration of HGPRT is found in

A

Basal ganglia

147
Q

Rate limiting step in uric acid synthesis

A

Xanthine oxidase

148
Q

Seen in gout when hyperuricemia affects big to joint

A

Podagra

149
Q

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

A

Kearns-Sayre Syndrome

150
Q

Most frequent mitochondrial disease of the perinatal period and early infancy

A

Leigh Encephalopathy/Subacute Periventricular Necrotizing Encephalopathy (SPNE)

151
Q

Idiopathic basal ganglia calcification in the young

A

Fahr syndrome

152
Q

Treatment of Fahr syndrome

A

Steroids

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