Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: six years experience
Egyptian Journal of Medical Human Genetics [The]. 2009; 10 (2): 186-197
em Inglês
| IMEMR
| ID: emr-97441
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
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Criança
/
Prevalência
/
Aminoácidos
Tipo de estudo:
Estudo de prevalência
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Egypt. J. Med. Hum. Genet.
Ano de publicação:
2009
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