Protoporphyrinogen oxidase, porphobilinogen deaminase and uroporphyrinogen decarboxylase in variegate porphyria

1985 ◽  
Vol 13 (1) ◽  
pp. 203-204 ◽  
Author(s):  
P. N. MEISSNER ◽  
E. D. STURROCK ◽  
M. R. MOORE ◽  
P. B. DISLER ◽  
D. L. MAEDER
Keyword(s):  
Porphobilinogen Deaminase ◽  
Uroporphyrinogen Decarboxylase ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria

1986 ◽  
Vol 16 (3) ◽  
pp. 257-261 ◽  
Author(s):  
P. N. MEISSNER ◽  
R. S. DAY ◽  
M. R. MOORE ◽  
P. B. DISLER ◽  
E. HARLEY
Keyword(s):  
Porphobilinogen Deaminase ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients

2013 ◽  
Vol 43 (7) ◽  
pp. 668-678 ◽  
Author(s):  
Miguel D. Ferrer ◽  
Pedro Tauler ◽  
Antoni Sureda ◽  
Clara Palacín ◽  
Josep A. Tur ◽  
...  
Keyword(s):  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

Variant acute intermittent porphyria in a child

1990 ◽  
Vol 36 (5) ◽  
pp. 812-814 ◽  
Author(s):  
N R Badcock ◽  
G D Zoanetti ◽  
D A O'Reilly ◽  
E F Robertson
Keyword(s):  
Family History ◽  
Parenteral Nutrition ◽  
Enzyme Activities ◽  
Clinical Symptoms ◽  
Acute Intermittent Porphyria ◽  
Normal Activity ◽  
Porphobilinogen Deaminase ◽  
Acute Porphyria ◽  
Protoporphyrinogen Oxidase ◽  
History Of

Abstract A child who was grossly malnourished and who showed increased excretion of porphyrin and porphyrin precursor had normal activity of erythrocyte porphobilinogen deaminase (EC 4.3.1.8) and leukocyte protoporphyrinogen oxidase (EC 1.3.3.4). Clinical symptoms, coincident with the excretion of rose-colored urine, were consistent with the diagnosis of an acute porphyria. The disease resolved spontaneously after the withdrawal of carbamazepine and sodium valproate and the commencement of parenteral nutrition with subsequent carbohydrate loading. In addition to normal concentrations of enzyme activities, the patient is unusual in presenting before puberty and in having no family history of porphyria.

scholarly journals Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband

1998 ◽  
Vol 110 (4) ◽  
pp. 452-455 ◽  
Author(s):  
Jorge Frank ◽  
John McGrath ◽  
HaMut Lam ◽  
Robert M. Graham ◽  
John L.M. Hawk ◽  
...  
Keyword(s):  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene

1996 ◽  
Vol 99 (1) ◽  
pp. 126-129 ◽  
Author(s):  
H.-M. Lam ◽  
Laryssa Dragan ◽  
H. C. Tsou ◽  
Hans Merk ◽  
Monica Peacocke ◽  
...  
Keyword(s):  
Molecular Basis ◽  
De Novo ◽  
Insertion Mutation ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

scholarly journals Variegate Porphyria: Identification of a Nonsense Mutation in the Protoporphyrinogen Oxidase Gene

1998 ◽  
Vol 110 (4) ◽  
pp. 449-451 ◽  
Author(s):  
Jorge Frank ◽  
Frank K. Jugert ◽  
Katrin Kalka ◽  
Günter Goerz ◽  
Hans F. Merk ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

The use of leucocyte protoporphyrinogen oxidase activity in screening a family with variegate porphyria

1986 ◽  
Vol 14 (1) ◽  
pp. 153-154 ◽  
Author(s):  
JOSEPH BOYLE ◽  
XENIA HORDOVATZI ◽  
GEORGE G. THOMPSON ◽  
MICHAEL R. MOORE
Keyword(s):  
Oxidase Activity ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria

Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria

2017 ◽  
Vol 44 (12) ◽  
pp. e317-e318 ◽  
Author(s):  
Shengru Zhou ◽  
Xiaoqing Zhao ◽  
Hongyan Kang ◽  
Renchao Xu ◽  
Yunqiu Yu ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Heterozygous Mutation ◽  
Oxidase Gene ◽  
Protoporphyrinogen Oxidase ◽  
Variegate Porphyria
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