Disorders of Organic Acid Metabolism Flashcards Preview

Inborn Errors Of Metabolism > Disorders of Organic Acid Metabolism > Flashcards

Flashcards in Disorders of Organic Acid Metabolism Deck (5)
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BCAA Metabolism Disorders

Propionic Acidemia PA
Isovaleric Acidemia IVA
Methylmalonic Aciduria MMA


PA/IVA/MMA Presentation

Range: severe neonatal metabolic decompensation >> chronic FTT, developmental delay
* IVA > body odor reminiscent of SWEATY FEET
* PA/MMA > BASAL GANGLIA ischemia, RTA, pancreatitis, CMP


PA/IVA/MMA Diagnosis

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


PA/IVA/MMA Treatment

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


Glutaric Aciduria Type I

Cause: glutaryl-CoA dehydrogenase deficiency >> 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