Metabolic Disorders

Question 0

Which metabolic disorder caused a brick dust color urine in the diaper?

Answer 0

Alkaptonuria

Question 1

Which metabolic disorder can present with a “mousy” or “wolf-like” odor?

Answer 1

Phenylketonuria

Question 2

Which are the branched amino acids?

Answer 2

Leucine, isoleucine and valine

Question 3

What is the diagnostic test for MSUD?

Answer 3

Finding alloisoleucine in serum

Question 4

Which metabolic disease can present with subdural hematomas and retinal hemorrhages and can be mistaken for child abuse?

Answer 4

Glutaric aciduria Type 1

Question 5

Which metabolic disorder can have marfanoid features, developmental delay with low IQ and DOWNWARD lens dislocation? (Marfans has upward lens dislocation)

Answer 5

Homocystinuria

Question 6

What metabolic disorder that can present with hiccups in utero?

Answer 6

Nonketotic hyperglycinemia

Question 7

Which is the only urea cycle defect that is not Autosomal recessive?

Answer 7

Ornithinine transcarbamylase deficiency - XR

Question 8

Which 2 metabolic disorders can have a “sweaty feet” odor?

Answer 8

Isovaleric acidemia

Glutaric aciduria Type 2

Question 9

What metabolic deficiency presents with classic triad of alopecia, skin rash, and encephalopathy?

Answer 9

Multiple carboxylase deficiency

Question 10

What enzymes are deficient in multiple carboxylase deficiency?

Answer 10

Biotinidase or holocarboxylase synthetase

Question 11

What metabolic disorder is characterized by hyperammonemia, ketoacidosis, thrombocytopenia, chronic ketotic hyperglycinemia, vomiting and FTT? May also have renal failure and cardiomyopathy as late complication?

Answer 11

Methylmalonic acidemia

Question 12

What is the most common disorder of fatty acid oxidation?

Answer 12

Medium chain acyl-CoA dehydrogenase (MCAD)

Question 13

Which subset of metabolic disorders is characterized by arrhythmias in infancy and cardiomyopathies?

Answer 13

Fatty acid oxidation disorders

Question 14

What serum levels do you check to diagnose MCAD?

Answer 14

Elevated C8, C8:1, C 10:1 esters

Question 15

Which metabolic disorder presents with cirrhosis of the liver, hepatomegaly and FTT within 18 months?

Answer 15

Type IV glycogen storage disease

Question 16

What abnormal glycogen builds up in the liver in Type IV glycogen storage disease?

Answer 16

Resembles amylopectin

Question 17

What enzyme is absent in Von Gierkes disease? Glycogen storage disease type 1

Answer 17

Defective glucose-6-phosphatase

Question 18

Which subset of Von Gierkes disease has oral and intestinal ulcers, neutropenia and recurrent bacterial infections?

Answer 18

Type 1b

Question 19

Which metabolic disorder is characterized by exercised induced muscle cramps and exercise intolerance, myoglobinuria and elevated CPK after exercise?

Answer 19

McArdle Disease or Type V glycogen storage disease

Question 20

Which glycogen storage disease do symptoms WORSEN if a carbohydrate loaded meal is eaten before exercise?

Answer 20

Type VII glycogen storage disease or Tarui Disease

Question 21

What is primary manifestation of galactokinase deficiency?

Answer 21

Cataracts

Question 22

Which metabolic syndrome presents with jaundice, HSM, hypoglycemia, cataracts, MR, cirrhosis, seizures, or vitreous hemorrhage?

Answer 22

Galactosemia

Question 23

What is diagnostic test for Galactosemia?

Answer 23

Fluorescent spot test (Beutler test) for GALT activity

Question 24

What is the enzyme defect in Galactosemia?

Answer 24

Deficiency of galactose 1-phosphate uridyltransferase

Question 25

What disorder often presents when child is first exposed to table sugar?

Answer 25

Hereditary fructose intolerance or deficiency of fructose 1,6-bis phosphate aldolase

Question 26

Which disorder will giving sugar to help hyoglycemia actually worsens hypoglycemia and coma/death can occur?

Answer 26

Hereditary fructose intolerance