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.
Mentioned in ?
References in periodicals archive ?
3) Organic acidaemias are also rare, with a European prevalence estimated at 1:29,000-1:65,000(4).
These cases represent over 60% of all IMDs diagnosed in this period and the majority fall into 3 main categories, namely the organic acidaemias (OAs), the urea cycle defects (UCDs) and the mitochondrial cytopathies.