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N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.

Abstract：

:We report the 9-year follow-up of a patient suffering from N-acetylglutamate synthetase deficiency, an urea cycle disorder leading to severe neonatal hyperammonaemia. Hitherto two patients from two families with this inborn error of metabolism had been observed. Our management consisted mainly of a protein-restricted diet and oral treatment with N-carbamylglutamate, an activator of carbamylphosphate synthetase, together with arginine or citrulline. The somatic development was normal whereas a moderate psychomotor retardation was diagnosed. The patient died after an episode of coma and prolonged generalized convulsions at the age of 9.5 years.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

Schubiger G,Bachmann C,Barben P,Colombo JP,Tönz O,Schüpbach D

doi

10.1007/BF01955939

subject

Has Abstract

pub_date

1991-03-01 00:00:00

pages

353-6

issue

5

eissn

0340-6199

issn

1432-1076

journal_volume

150

pub_type

杂志文章

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