Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation

被引：25

作者：

Cleary, MA

Dorland, L

de Koning, TJ

Poll-The, BT

Duran, M

Mandell, R

Shih, VE

Berger, R

Olpin, SE

Besley, GTN ^{[1
]}

机构：

[1] Royal Manchester Childrens Hosp, Willink Biochem Genet Unit, Manchester M27 4HA, Lancs, England

[2] Sheffield Childrens Hosp, Dept Neonatal Screening, Sheffield, S Yorkshire, England

[3] Massachusetts Gen Hosp, Amino Acid Disorders Lab, Boston, MA 02114 USA

[4] AMC Amsterdam, Lab Genet Metab Dis, Amsterdam, Netherlands

[5] AMC Amsterdam, Dept Child Neurol, Amsterdam, Netherlands

[6] UMC Utrecht, Dept Metab & Endocrine Dis, Utrecht, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2005年 / 28卷 / 05期

关键词：

D O I：

10.1007/s10545-005-0074-1

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.

引用

页码：673 / 679

页数：7