AN UNUSUAL CASE OF VARIEGATE PORPHYRIA WITH POSSIBLE HOMOZYGOUS INHERITANCE

被引：13

作者：

COAKLEY, J

HAWKINS, R

CRINIS, N

MCMANUS, J

BLAKE, D

NORDMANN, Y

SLOAN, L

CONNELLY, J

机构：

[1] HOP LOUIS MOURIER,MED BIOCHEM,F-92701 COLOMBES,FRANCE

[2] ROYAL MELBOURNE HOSP,DEPT BIOCHEM,PARKVILLE,VIC 3050,AUSTRALIA

[3] PETER MACCALLUM HOSP,DEPT BIOCHEM,MELBOURNE,VIC,AUSTRALIA

来源：

AUSTRALIAN AND NEW ZEALAND JOURNAL OF MEDICINE | 1990年 / 20卷 / 04期

关键词：

5α; epilepsy; homozygous variant; mental retardation; protoporphyrinogen oxidase; reductase; Variegate porphyria;

D O I：

10.1111/j.1445-5994.1990.tb01320.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Abstract We report an unusual case of variegate porphyria in a young girl with epilepsy, mental retardation and premature adrenarche. Symptoms of porphyria commenced about the age of 12 years and death occurred about 18 months later. The patient had very low protoporphyrinogen oxidase activity in her cultured fibro‐blasts. Both parents had half the normal activity of this enzyme in lymphocytes and are heterozygous for the abnormal gene for variegate porphyria. Therefore, it is possible that the patient was a homozygous variant. Anticonvulsant therapy and low hepatic 5α reductase activity were probably other contributing factors to the severity of the condition in this patient. Copyright © 1990, Wiley Blackwell. All rights reserved

引用

页码：587 / 589

页数：3

共 17 条

[1] ENZYMATIC DEFECT IN VARIEGATE PORPHYRIA - STUDIES WITH HUMAN CULTURED SKIN FIBROBLASTS [J].