HAWKINSINURIA IN 2 FAMILIES

被引：14

作者：

BORDEN, M

HOLM, J

LESLIE, J

SWEETMAN, L

NYHAN, WL

FLEISHER, L

NADLER, H

LEWIS, D

SCOTT, CR

机构：

[1] UNIV CALIF SAN DIEGO,DEPT PEDIAT 0609A,LA JOLLA,CA 92093

[2] WAYNE STATE UNIV,DETROIT,MI 48202

[3] UNIV WASHINGTON,SEATTLE,WA 98195

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 01期

关键词：

HAWKINSINURIA; AUTOSOMAL DOMINANT; METABOLIC ACIDOSIS; SULFUR-CONTAINING AMINO ACIDS;

D O I：

10.1002/ajmg.1320440113

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hawkinsinuria, a disorder of tyrosine metabolism has been documented in two families in the United States, in one of which there was clear evidence of autosomal dominant inheritance. Metabolic acidosis and failure to thrive appear to be confined to infancy. Tyrosyl metabolites and 5-oxoproline are also found only in infancy, while 4-hydroxycyclohexylacetic acid was present only with time. The disease may be detected by organic acid analysis or by staining an electropherogram for sulfur containing compounds.

引用

页码：52 / 56

页数：5

共 10 条

[1]

Borden M., 1984, AMINO ACID METABOLIS, P401

[2] NEW FORM OF PROLONGED TRANSIENT TYROSINEMIA PRESENTING WITH SEVERE METABOLIC-ACIDOSIS [J].