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

الملخص EN

Objective: 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.

Subjects and Methods: 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.

Results: 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 3cases (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 %).

Conclusion: 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.