Disorders of Organic Acid Metabolism

Question 0

PA/IVA/MMA Presentation

Answer 0

Range: severe neonatal metabolic decompensation&raquo_space; chronic FTT, developmental delay

• IVA > body odor reminiscent of SWEATY FEET
• PA/MMA > BASAL GANGLIA ischemia, RTA, pancreatitis, CMP

Question 1

BCAA Metabolism Disorders

Answer 1

Propionic Acidemia PA
Isovaleric Acidemia IVA
Methylmalonic Aciduria MMA

Question 2

PA/IVA/MMA Diagnosis

Answer 2

HAGMA, ketonuria, hyperammonemia
Glucose can be high, low or normal
*Acylcarnitine Profile, Urine Organic Acid Profile

Question 3

PA/IVA/MMA Treatment

Answer 3

Protein restriction
Carnitine supplementation (alternative secretion of P/MM acids)
*MMA s/t responsive to B12

Question 4

Glutaric Aciduria Type I

Answer 4

Cause: glutaryl-CoA dehydrogenase deficiency&raquo_space; abnormal metabolism of Lysine, Hydroxylysine, Tryptophan

Presentation: BASAL GANGLIA infarcts, dyskinesia, dystonia, cerebellar/frontotemporal atrophy, SUBDURAL HEMATOMAS (can be mistaken for abuse), macrocephaly

Diagnosis: high glutaric acid (CSF or urine), abnl acylcarnitine profile
no hypoglycemia, acidosis, hyperammonemia

Treatment: restrict Lysine and Tryptophan in diet, carnitine supplementation