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)
Loading flashcards...
0
Q

PA/IVA/MMA Presentation

A

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
1
Q

BCAA Metabolism Disorders

A

Propionic Acidemia PA
Isovaleric Acidemia IVA
Methylmalonic Aciduria MMA

2
Q

PA/IVA/MMA Diagnosis

A

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

3
Q

PA/IVA/MMA Treatment

A
Protein restriction
Carnitine supplementation (alternative secretion of P/MM acids)
*MMA s/t responsive to B12
4
Q

Glutaric Aciduria Type I

A

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