Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening

被引：4

作者：

Vilarinho, Laura ^{[1
]}

Marques, Jorge Sales ^{[2
]}

Rocha, Hugo ^{[1
]}

Ramos, Altina ^{[1
]}

Lopes, Lurdes ^{[1
]}

Narayan, Srinivas B. ^{[3
]}

Bennett, Michael J. ^{[3
,4
]}

机构：

[1] Natl Inst Hlth, Newborn Screening Unit, Oporto, Portugal

[2] Gaia Hosp, Dept Pediat, Gaia, Portugal

[3] Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA USA

[4] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2012年 / 106卷 / 03期

关键词：

SCHAD deficiency; Fatty acid oxidation defects; Metabolic disorders; Acylcarnitine analysis; CRYSTAL-STRUCTURE DETERMINATION; GLUTAMATE-DEHYDROGENASE; BETA-OXIDATION; HYPERINSULINISM; MUTATIONS; MECHANISM; GENE;

D O I：

10.1016/j.ymgme.2012.04.005

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare cause of impaired mitochondrial fatty acid oxidation. We present a case report of a patient with hyperinsulinism and homozygosity for a novel mutation causing a kinetic variant of the enzyme. The diagnosis was Initially inferred by abnormal newborn screening acylcarnitine analysis with elevated C4-hydroxyacylcarnitine. (C) 2012 Elsevier Inc. All rights reserved.

引用

页码：277 / 280

页数：4

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