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Abstract
Organic acidurias are a class of inherited metabolic diseases characterized by urinary excretion of abnormal amounts or types of organic acids. There are many of these congenital disorders. They vary in their seriousness from trivial to lethal. Most of them affect more than one organ system. Some affect central nervous system development, causing developmental delay. Some affect physical growth. Some cause episodic illness with vomiting and metabolic acidosis.
Disorders of organic acid metabolism in the aggregate are not rare. It presents in the neonatal period with an approximate incidence of 1/1000 neonates, but many of them are not diagnosed until late in the course of the disease or not diagnosed at all because of paucity of facilities to investigate such patients in Developing countries..
The diagnosis is usually made by detecting an abnormal pattern of organic acid in urine sample by gas chromatography/mass spectroscopy. Many of the organic acidurias are detected by newborn screening with tandem mass spectrometry.
The aim of the work is to study the pattern of clinical presentation and laboratory finding in patients of organic aciduria and to increase the awareness of the clinicians by the organic acidurias because outcome is enhanced by diagnosis in the first ten days of life.
This study included 16 cases which finally diagnosed as organic acidemia, these patients were attending the outpatient clinic of inborn error of metabolism at Abu-Elriche hospital.
The specific diagnosis of this 16 cases are : maple syrup urine disease (3 cases), alkaptonuria (4 cases), methylmalonic acidemia (2 cases), biotinidase deficiency (2 cases), propionic acidemia (one case), isovaleric acidemia (one case), glutaric acidemia (one case), Hydroxymethyl glutaryl CoA lyase deficiency (one case), beta- ketothiolase deficiency (one case).
In our study seizures were the most common initial presentation and it occurred in 5 cases and also vomiting which occurred in 5 cases, followed by disturbed conscious level which occurred in 4 cases and dark color of urine in 4 cases, followed by global developmental delay in two cases, macrocephaly in one case.
In this study we found positive consanguinity in 93.8% of case and similar condition in the family in 43.7% of cases and this document the autosomal recessive pattern of inheritance.
In this study we found that, the most significant finding on clinical examination were acidotic breathing in 62.5%, skin rash in 43.7%, abnormal odor of urine and body in 25%, hypertonia in 25%, hypotonia in 25%, macrocephaly in 18.8%, microcephaly in 18.8%, abnormal eye and hair examination 31.3%
In this study we also found that, The most significant and most common clinical laboratory finding to these patients were metabolic acidosis in 68.7%, hyperammonemia in 62.5%, anemia in 62.5% of cases, hypoglycemia in 12.5% of cases.