Disorders

Question 1

Von Gierke Disease

Answer 1

Deficiency: Glucose 6-Phosphatase

Pathway Affected: Glycogenolysis

Question 2

GSD 0

Answer 2

Deficiency: Glycogen Synthase
Pathway: Glycogenesis

Question 3

Pompe Disease

Answer 3

Deficiency: Acid Maltase
Pathway: Lysosomal glycogenolysis

Question 4

Andersen Disease

Answer 4

Deficiency: Glucosyl 4:6 Transferase
Pathway: chain branching

Question 5

McArdle Disease

Answer 5

Deficiency: MUSCLE Glycogen Phosphorylase
Pathway: Glycogenolysis

Question 6

Hers Disease

Answer 6

Deficiency: LIVER Glycogen Phosphorylase
Pathway: Glycogenolysis

Question 7

CPT 1 Deficiency

Answer 7

Defect in carnitine palmitoyltransferase I (CPT1)

Question 8

CACT Deficiency

Answer 8

Defect in carnitine-acylcarnitine translocase (CACT)

Question 9

CPT II Deficiency

Answer 9

Defect in carnitine palmitoyltransferase II (CPT2)

Question 10

MCAD Deficiency

Answer 10

Defect in medium-chain acyl CoA Dehydrogenase (MCAD)

Question 11

Zellweger Syndrome

Answer 11

Defect in biogenesis of peroxisome

Question 12

Infantile Refsum Disease

Answer 12

Defect in assembly of peroxisomes

Question 13

X-linked adrenoleukodystrophy

Answer 13

Defect in transport of very long chain FAs into peroxisome

Question 14

Adult Refsum Disease

Answer 14

Defect in degradation of phytanic acid in peroxisom

Question 15

Tarui Disease

Answer 15

Deficiency in PFK-1 characterized by muscle weakness and hemolytic anemia

Question 16

Fanconi-Bickel Syndrome

Answer 16

Defect in GLUT2 — cannot uptake Fructose, Galactose, and Glucose
Patient will exhibit hepatomegaly, tubular nephropathy, and rickles
Treated with Vitamin D and Phosphate

Question 17

Galactosemia

Answer 17

GALT deficiency leading to liver failure, sepsis, and cataracts

Question 18

Renal Lithiasis (Kidney Stones)

Answer 18

Defect in Adenine Phosphoribosyl-transferase (APRT)

Adenine + PRPP —> AMP

Question 19

Lesch-Nyhan Syndrome

Answer 19

Defect in Hypoxanthine-guanine Phosphoribosyl-Transferase (HGPRT)
Guanine + PRPP —> GMP or IMP
Causes Gout

Question 20

Kelley-Seegmiller Syndrome

Answer 20

Defect in Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPRT)
Guanine + PRPP —> GMP or IMP

Question 21

Cystinuria

Answer 21

Defect in Cys, Lys, Arg, and Ornithine resorption

Question 22

Hartnup Disease

Answer 22

Defect in Tryptophan resorption

Question 23

Homocystinuria

Answer 23

Defect in Cystathionine beta-Synthase

Supplement B6, B9, and B12 for treatment

Question 24

Maple Syrup Urine Disease

Answer 24

Defect in Branched-Chain alpha-keto acid Dehydrogenase (BCKD)

Question 25

Phenylketoneuria

Answer 25

Defect in Phenylalanine Hydroxylase
Phe cannot go to Tyr
Musty Urine

Question 26

Alkaptonuria (Ochronosis)

Answer 26

Defect in Homogentisate Oxidase
Causes Homogentisate accumulation
Black Urine

Question 27

Parkinson’s Disease

Answer 27

Defect in Tyrosine Hydroxylase

Question 28

Albinism

Answer 28

Defect in Tyrosinase

Question 29

Hyperammonemia

Answer 29

Defect in Carbamoyl Phosphate Synthetase I (CPS-1)

RLS in Urea Cycle

Question 30

Hyperammonemia with Orotic Aciduria

Answer 30

Defect in Ornithine Transcarbamoylase

X-linked recessive

Question 31

Succinyl-CoA Synthetase Deficiency

Answer 31

Mutations in SUCLA2 and SUCLG1

Question 32

Niemann-Pick Disease

Answer 32

Defect in Sphingomyelinase
Accumulation of sphingomyelin in lysosomes of liver, spleen, and CNS
Causes neuro deficits and hallmark “cherry red spot” in eye

Question 33

Spur cell anemia

Answer 33

Elevated cholesterol decreases membrane fluidity