organic acidaemia

organic acidaemia

A nonspecific term for a group of metabolic disorders characterised by a defect of metabolism of organic acids (especially branched-chain amino acids—isoleucine, leucine and valine), resulting in their accumulation in the circulation and excretion in the urine.
 
Clinical findings
Developmental delays, poor feeding, lethargy, vomiting, dehydration, malnutrition, hypoglycaemia, hypotonia, metabolic acidosis, ketoacidosis, hyperammonaemia and, untreated, death.