A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency

被引：43

作者：

Ruiz, Angeles ^{[2
]}

Garcia-Villoria, Judit ^{[1
]}

Ormazabal, Aida ^{[3
]}

Zschocke, Johannes ^{[4
]}

Fiol, Miquel ^{[2
]}

Navarro-Sastre, Aleix ^{[1
]}

Artuch, Rafael ^{[3
]}

Vilaseca, Ma Antonia ^{[3
]}

Ribes, Antonia ^{[1
]}

机构：

[1] Hosp Clin Barcelona, Ctr Biomed Res Rare Dis, Div Inborn Errors Metab, Dept Biochem & Mol Genet, Barcelona 08028, Spain

[2] Hosp Son Dureta, Dept Pediat, Palma de Mallorca, Spain

[3] Hosp San Juan Dios, Ctr Biomed Res Rare Dis, Dept Clin Biochem, Barcelona, Spain

[4] Univ Heidelberg, Inst Human Genet, Heidelberg, Germany

来源：

MOLECULAR GENETICS AND METABOLISM | 2008年 / 93卷 / 02期

关键词：

pyridox(am)ine 5'-phosphate oxidase; PNPO; pyridoxal 5'-phosphate; PLP; neonatal convulsions; burst-suppression; vanillactate; Hyperglycinemia;

D O I：

10.1016/j.ymgme.2007.10.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present a patient with severe pyridox(am)ine 5'-phosphate oxidase deficiency and homozygosity for a novel nonsense-mutation, p.A174X, in the PNPO gene who died with pyridoxal phosphate (PLP) treatment despite initial clinical recovery. He presented neonatally, with the classical clinical symptoms of the disease. Increase of urinary vanillactate was the first biochemical factor of alert. Amino acid and neurotransmitter analysis in CSF indicated reduced activity of several PLP-dependent enzymes. The diagnosis was confirmed by mutational studies. From this and the other reported patients it may be concluded that the administration of PLP should not be delayed until the complete biochemical evidence is obtained. (C) 2007 Elsevier Inc. All rights reserved.

引用

页码：216 / 218

页数：3

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