Metabolics Basic

Question 1

[Met/Basic]

Examples of X-linked inborn errors of metabolism? (5)

Answer 1

1. Mucopolysaccharidoses type 2 (MPS Hunter)
2. Fabry disease
3. OTC Deficiency
4. Menkes disease
5. Lesch-Nyhan syndrome

Question 2

[Met/Basic]

___ % of sick, full term newborns account for inborn errors of metabolism?

Answer 2

20% of sick, full term newborns account for inborn errors of metabolism

Question 3

[Met/Basic]

Which intoxication?
AA vs OA vs UCD vs Sugar

High anion gap metabolic acidosis with ketonuria
Abnormal plasma amino and urine organic acids
(no hyperammonemia)

Answer 3

Amino acid disorders

Question 4

[Met/Basic]

Which intoxication?
AA vs OA vs UCD vs Sugar

High plasma ammonia
Minimal metabolic acidosis
Respiratory alkalosis

Answer 4

Urea cycle disorders

Question 5

[Met/Basic]

Which intoxication?
AA vs OA vs UCD vs Sugar

High anion gap metabolic acidosis with ketonuria
Mild to moderate elevated plasma ammonia
Hypoglycemia
Increased glycine
Abnormal plasma amino and urine organic acids

Answer 5

Organic acidemias

Question 6

[Met/Basic]

Which intoxication?
AA vs OA vs UCD vs Sugar

Urine organic acids
Elevated liver enzyme

Answer 6

Sugar intolerance

Question 7

[Met/Basic]

Categories of diseases in newborn screening? (5)

Answer 7

1. Inborn errors of metabolism
   Amino acids, organic acids, urea cycles, fatty acids, galactosemia
   Lysosomal storage: MPS1, Pompe, Krabbe, Fabry, Gaucher, NPD
2. Hemoglobinopathies: thalassemia, sickle
3. Immunodeficiency: SCID, HIV
4. Endocrine disorders: Thyroid, CAH
5. Other: cystic fibrosis, SMA, ALD