Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: six years experience

ABSTRACT

To determine the prevalence and types of inborn errors of amino acid or organic acid metabolism in a group of high risk Egyptian children with clinical signs and symptoms suggestive of inherited metabolic diseases. 117 [79 males = 67.5% and 38 females = 32.5%] high risk patients with signs and symptoms of a metabolic disorder were studied, their ages ranged from 3 days to 12 years. Analysis of urine organic acids by gas chromatography/mass spectrometry [GC/MS] was performed to all patients. 22[18.8% of the total] cases were diagnosed with different types of aminoacidopathies or organic acidurias. The disease profile showed increased lactate in 12 cases [54%], glutaric aciduria type I 3 cases [13%], phenylketonuria 2 cases [9%], maple syrup urine disease 1 case [4.5%], glutaric aciduria type II 1 case [4.5%], methylmalonic aciduria 1 case [4.5%], Canavan disease 1 case [4.5%] and non ketotic hyperglycemia 1 case [4.5%]. The results demonstrate the importance of the organic acid profile in the diagnosis of high risk patients. The diagnosed organic acid pattern in this study showed that 10.2% of the patients had a mitochondrial energy defect