Major Congenital Metabolic Disorders

Question 1

von Gierke disease

Answer 1

glucose-6-phosphatase deficiency

hypoglycemia

massive hepatomegaly

impaired glycogenolysis

Question 2

McArdle disease

Answer 2

muscle glycogen phosphorylase deficiency

muscle pain, exercise intolerance

impaired glycogenolysis

Question 3

G6PD deficiency

Answer 3

RBC susceptibility to oxidative stress (sulfa/antimalarials, infection)

hemolytic anemia

impaired PPP

Question 4

MCAD deficiency

Answer 4

hypoglycemia
hypoketotic
hyperammonemia

impaired fatty acid oxidation

Question 5

urea cycle enzyme deficiencies

Answer 5

hyperammonemia

encephalopathy

Question 6

PKU

Answer 6

mental retardation
light pigmentation
eczema
mousy odor

toxic accum of phenylalanine, phenylketone derivatives

lack tyrosine

Question 7

maple syrup urine disease

Answer 7

poor feeding, psychomotor retardation
maple syrup odor to urine

toxic accum of branched aa (leucine) and ketoacid derivatives

Question 8

AIP and acute porphyrias

Answer 8

accum porphyrin intermediates toxic to neurons

neurovisceral sx (neuropathy, episodic ab pain)

impaired heme synthesis

Question 9

PT and cutaneous porphyrias

Answer 9

accum photoreactive porphyrins in skin/RBCs

photosensitive blistering

impaired heme synthesis

Question 10

hemolytic porphyrias

Answer 10

hemolytic anemia

impaired heme synthesis

Question 11

CAH 21a hydroxylase

Answer 11

low cortisol, mineralocorticoids
excess androgens

virilization in females
salt wasting with hypotnesion, hyponatremia, hyperkalemia

Question 12

CAH 11B hydroxylase

Answer 12

low cortisol,
excess mineralocorticoids and androgens

virilization in females
hypertension and fluid overload

Question 13

CAH 17a hydroxylase

Answer 13

low cortisol, androgens
excess mineralocorticoids

male pseudohermaphrodism
hypertension and fluid overload