Metab, Misc + CDB Flashcards
1
Q
T/F infant galactosemia is a contraindication to breast feeding
A
T
2
Q
Alternative to breast milk if the infant has galactosemia
A
Soy protein based formula
3
Q
Classic Galactosemia is due to absence of
A
Galactose-1-phosphate uridyltransferase
Others: Galactokinase, uridine diphosphate galactose-4-epimerase
4
Q
Jaundice, hepatomegaly, and positive urinary-reducing substance; infant
A
Galactosemia
5
Q
Mode of inheritance of Galactosemia
A
Autosomal recessive
6
Q
Galactosemia, SIGNS AND SYMPTOMS
A
Cataracts, hepatosplenomegaly, mental retardation
7
Q
Galactosemia, TREATMENT
A
Exclude galactose and lactose from diet
8
Q
Organs particularly damaged in galactosemia if not diagnosed at birth
A
Liver, brain, kidney
9
Q
Neonates with galactosemia are at increased risk for ___ sepsis
A
Escherichia coli
10
Q
T/F Elimination of galactose from diet in galactosemia does not ensure reversal of cataract formation.
A
T
11
Q
In G6PD deficiency, symptoms develop ___ days after exposure to substance with oxidising properties
A
1-2
12
Q
Heinz bodies
A
G6PD deficiency; thalassemia
13
Q
Mode of inheritance of G6PD deficiency
A
X-LINKED RECESSIVE
14
Q
Causes fulminant infection in glucose-6-phosphate dehydrogenase (G6PD) deficiency
A
Rocky Mountain spotted fever
15
Q
RBC seen in G6PD
A
Schistocyte
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
17
Q
Role of G6PD in RBCs
A
Normally maintains adequate level of glutathione in a reduced state
18
Q
In G6PD deficiency, oxidized glutathione complexes with Hgb (denatured hgb, forming ___
A
Heinz bodies
19
Q
G6PD makes RBCs ___ hence, easily undergoes lysis
A
Less deformable
20
Q
Most common hemolytic enzymopathy
A
G6PD deficiency
21
Q
Fava beans
A
G6PD deficiency
22
Q
Bite cells on peripheral smear
A
G6PD deficiency
23
Q
How to treat G6PD def in newborns
A
Reduce oxidative stress and specialized diets
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
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
