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Glutathione synthetase deficiency
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نویسنده
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shehzadi n.
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منبع
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pakistan paediatric journal - 2017 - دوره : 41 - شماره : 2 - صفحه:112 -115
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چکیده
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It is a rare genetically determined autosomal recessive disorder characterized by metabolic acidosis,haemolytic anemia and neurological involvement along with marked excretion of 5-oxo-proline in the urine that is pathognomonic of this disorder. 1we report a 3 months old infant who presented with respiratory distress,loose motions and hepato-splenomegaly. laboratory investigations show high anion gap severe metabolic acidosis,urinary organic acids study shows marked elevation of 5-oxo-proline in the urine. © 2017,pakistan pediatric journal. all rights reserved.
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کلیدواژه
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5-oxo-prolinuria; Glutathione synthetase deficiency; Metabolic acidosis
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آدرس
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department of pediatrics gastroenterology and hepatology,the children’s hospital and the institute of child health,lahore, Pakistan
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Authors
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