COEXISTENT HEREDITARY COPROPORPHYRIA AND CONGENITAL ERYTHROPOIETIC PORPHYRIA (GUNTHER DISEASE)

被引:18
作者
NORDMANN, Y [1 ]
AMRAM, D [1 ]
DEYBACH, JC [1 ]
PHUNG, LN [1 ]
LESBROS, D [1 ]
机构
[1] HOSP CAREMEAU,DEPT PAEDIAT,F-30006 NIMES,FRANCE
关键词
D O I
10.1007/BF01799568
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease). Enzyme studies confirmed this new type of dual porphyria. © 1990 SSIEM and Kluwer Academic Publishers.
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页码:687 / 691
页数:5
相关论文
共 13 条
[1]   COEXISTENT VARIEGATE PORPHYRIA AND PORPHYRIA CUTANEA-TARDA [J].
DAY, RS ;
EALES, L ;
MEISSNER, D .
NEW ENGLAND JOURNAL OF MEDICINE, 1982, 307 (01) :36-41
[2]  
DEYBACH JC, 1980, HUM GENET, V53, P217, DOI 10.1007/BF00273499
[3]  
DOSS M, 1984, LANCET, V1, P292
[5]   RADIOCHEMICAL METHOD FOR MEASUREMENT OF COPROPORPHYRINOGEN OXIDASE AND UTILIZATION OF SUBSTRATES OTHER THAN COPROPORPHYRINOGEN-III BY ENZYME FROM RAT-LIVER [J].
ELDER, GH ;
EVANS, JO .
BIOCHEMICAL JOURNAL, 1978, 169 (01) :205-214
[6]   COPROPORPHYRINOGEN-III OXIDASE ASSAY [J].
GRANDCHAMP, B ;
NORDMANN, Y .
ENZYME, 1982, 28 (2-3) :196-204
[7]  
KAPPAS A, 1989, METABOLIC BASIS INHE, P1305
[8]   ENZYMATIC PROPERTIES OF UROPORPHYRINOGEN 3 COSYNTHETASE [J].
LEVIN, EY .
BIOCHEMISTRY, 1971, 10 (25) :4669-&
[9]   SEPARATION OF PORPHYRIN ISOMERS BY HIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY [J].
LIM, CK ;
RIDEOUT, JM ;
WRIGHT, DJ .
BIOCHEMICAL JOURNAL, 1983, 211 (02) :435-438
[10]  
MCCOLL KEL, 1985, LANCET, V2, P796