Key Symptoms: Metabolics

Question 1

Alkaptonuria

Answer 1

Black urine

Question 2

MSUD

Answer 2

SEE: What’s That Smell?

Question 3

PKU

Answer 3

Fair skin/blonde hair, musty odor

Question 4

Tyrosinemia

Answer 4

Rickets, cabbage smell

Question 5

Fatty Acid Oxidation Disorders ,

Answer 5

Crisis during fasting, illness, or after high fat consumption, hypoketotic hypoglycemia

Question 6

Galactosemias

Answer 6

Cataracts, symptom onset before NBS results return (caused by mother’s milk)

Question 7

Pompe (also a GSD)

Answer 7

Mimics limb-girdle muscular dystrophy (excluding neonatal onset)

Question 8

Fabry

Answer 8

Corneal whorl, Fabry crises, HCM

Question 9

Gaucher
Gaucher Type 2
Gaucher Type 3

Answer 9

Erlenmeyer flash deformity, Gaucher cells (microscopic), Bone crises
No bone crises, most severe (psychomotor complications)
Oculomotor apraxia

Question 10

MPS

Answer 10

Skeletal anomalies with coarse facial features (caused by GAG deposition beneath skin), corneal clouding (NOT ALL)

Question 11

MPS II and III (Hunter and San Filippo)

Answer 11

Clear corneas

Question 12

MPS IV and VI (Morquio and Maroteaux-Lamy)

Answer 12

Normal cognitive ability

Question 13

MPS III

Answer 13

Most mild skeletal phenotype

Question 14

MPS IV

Answer 14

Most severe skeletal phenotype

Question 15

Tay-Sachs

Answer 15

Cherry red spot (ALSO SEEN IN NIEMANN PICK TYPE A), progressive psychomotor deterioration

Question 16

Isovaleric Acidemia

Answer 16

SEE: What’s that smell?

Question 17

Urea Cycle Disorders

Answer 17

Protein aversion, hyperammonemia, respiratory alkalosis

Question 18

Arginase Deficiency

Answer 18

Only Urea Cycle Disorder where hyperammonemia is rarely present

Question 19

Canavan

Answer 19

TRIAD: Hypotonia, head lag, macrocephaly

Question 20

Hemochromatosis

Answer 20

Excess iron

Question 21

Smith-Lemli-Opitz

Answer 21

Elevated 7-dehydrocholesterol (7DHC)

Question 22

Wilson Disease

Answer 22

Elevated copper, Kaiser-Fleischer ring

Question 23

GSDs

Answer 23

Muscle weakness, crises during fasting/illness (differentiate from FAO by the NEED for high fat diets rather than intolerance to)

Question 24

Krabbe

Answer 24

Irritability with quickly progressive psychomotor deterioration