metabolism

Question 1

defect in protein/AA metabolism

Answer 1

organic acidemia

Question 2

elevated ammonia, metabolic acidosis, high anion gap, ketosis

Answer 2

organic acidemia

can have cell count suppression 22 acidosis

Question 3

sweaty feet smell

Answer 3

isovaleric acidemia (organic acidemia)

Question 4

hypoglycemia in time of fasting/starvation; hepatomegaly, normal AAs, elevated ammonia, no ketosis

Answer 4

fatty acid oxidation defects

• MCAD most common
• dx: plasma acylcarnitine profile

Question 5

poor feeding, FTT, reducing substances in urine, hypoglycemia

Answer 5

galactosemia

• E coli sepsis

Question 6

dx of galactosemia

Answer 6

RBC GALT measurement

Question 7

tx of galactosemia

Answer 7

soy formula, galactose/lactose free diet

Question 8

sequelae of galactosemia

Answer 8

cataracts (reversible), ID, liver disease

Question 9

hypoglycemia, seziures, macrocephaly, macrosomia

Answer 9

hyperinsulinism

Question 10

hypoglycemia, macrosomia, macroglossia, microcephaly, omphalocele

Answer 10

Beckwith Wiedemann

Question 11

doll face, hypoglycemia, hepatomegaly, elevated triglycerides and cholesterol

Answer 11

GSD type I
hepatic glucose 6 phosphatase deficiency
tx: continuous glucose feedings, corn starch

Question 12

floppy with “hard” muscles, FTT, cardiomegaly, hepatomegaly, macroglossia

Answer 12

GSD type II (Pompe)
deficiency in lysosomal breakdown of glycogen
DO NOT get hypoglycemia

Question 13

hyperammonemia without acidosis or ketosis; can have lactic acidosis, encephalopathy

Answer 13

urea cycle defects - e.g. OTC deficiency

tx: reduce protein intake

Question 14

lethargy, ketonuria, poor feeding, sweet urine

Answer 14

MSUD

BCAA breakdown problem

Question 15

dislocated lens (downward), skeletal abnormalities, cognitive defects, VTE risk, light skin, unpleasant odor

Answer 15

homocystinuria

tx: low methionine and low proteine diet
supp with betaine, folate, vit B12

Question 16

lethargy, rash, diarrhea in PKU baby

Answer 16

phenylalanine deficiency

Question 17

facial coarsening, hirsutism, hepatosplenomegaly, corneal clouding, thick skull

Answer 17

Hurler syndrome (mucopolysaccharidosis I)

Question 18

coarse facial features, joint contractures, organomegaly, pebbly skin, short, skeletal abnormalities

Answer 18

Hunter syndrome

Question 19

Hunter vs Hurler

Answer 19

Hurler - corneal clouding
Hunter - X-linked R
both: hepatoxplenomegaly, deafness

Question 20

hepatosplenomegaly, bone pain, easy brusiing

Answer 20

Gaucher - lipid storage disorder
thrombocytopenia
osteosclerosis, lytic lesions

Question 21

infantile vs juvenile gaucher

Answer 21

infantile - CNS deterioration, decreased beta glucosidase activity
juvenile - no CNS involvement, + splenomegaly

Question 22

normal dvlpmt to 9 months, then lethary, hypotonia, exaggerated startle, cherry red spot, blindness, seizures

Answer 22

Tay Sachs
AR
hexosaminidase A

Question 23

CNS deterioration, cherry red spot, hepatosplenomegaly

Answer 23

Niemann Pick

Question 24

myopathy, neurologic sx, deafness, seizures, stroke, cardomyopathy

Answer 24

mitochondrial disorder