Increased HVA detected on organic acid analysis in a patient with Costello syndrome

被引：6

作者：

Bowron, A ^{[1
]}

Scott, JG

Brewer, C

Weir, P

机构：

[1] Bristol Royal Infirm & Gen Hosp, Dept Clin Biochem, Bristol BS2 8HW, Avon, England

[2] Royal Devon & Exeter Hosp, Exeter EX2 5DW, Devon, England

[3] Bristol Royal Hosp Children, Paediat Intens Care Unit, Bristol, Avon, England

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2005年 / 28卷 / 06期

关键词：

D O I：

10.1007/s10545-005-0124-8

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Urine organic acid analysis is routinely performed to investigate inborn errors of metbolism; however, interpretation can be difficult owing to the detection of compounds derived from other disease states or from nonpathological causes. We describe the finding of elevated homovanillc acid (HVA) on urine organic acid analysis which was not associated with medication or a neuroendocrine tumour but with Costello syndrome.

引用

页码：1155 / 1156

页数：2