Literature DB >> 1577472

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.

D H Llewellyn1, S J Smyth, G H Elder, A C Hutchesson, J M Rattenbury, M F Smith.   

Abstract

A sister and brother with severe porphobilinogen (PBG) deaminase deficiency are described. Each of their parents carries a different mutation for acute intermittent porphyria and the children are homozygous for the PBG-deaminase deficiency that causes this disorder. Both are compound heterozygotes for adjacent base transitions in the same codon in exon 10 of the PBG deaminase gene.

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Year:  1992        PMID： 1577472     DOI： 10.1007/bf00207051

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  7 in total

1.  Increased erythrocyte protoporphyrin in homozygous variegate porphyria.

Authors:  V Kordac; P Martásek; J Zeman; A Rubín
Journal:  Photodermatol       Date:  1985-08

2.  Increased protoporphyrin in erythrocytes in a child with acute intermittent porphyria.

Authors:  A Gregor; E Kostrzewska; H Prokurat; Z Pucek; E Torbicka
Journal:  Arch Dis Child       Date:  1977-12       Impact factor: 3.791

3.  Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.

Authors:  C Picat; M H Delfau; F W de Rooij; G J Beukeveld; B G Wolthers; S K Wadman; Y Nordmann; B Grandchamp
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

4.  Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

Authors:  M H Delfau; C Picat; F W de Rooij; K Hamer; M Bogard; J H Wilson; J C Deybach; Y Nordmann; B Grandchamp
Journal:  J Clin Invest       Date:  1990-11       Impact factor: 14.808

5.  A retrospective study of a patient with homozygous form of acute intermittent porphyria.

Authors:  G J Beukeveld; B G Wolthers; Y Nordmann; J C Deybach; B Grandchamp; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

6.  Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding.

Authors:  M Lander; A R Pitt; P R Alefounder; D Bardy; C Abell; A R Battersby
Journal:  Biochem J       Date:  1991-04-15       Impact factor: 3.857

7.  DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria.

Authors:  D H Llewellyn; G H Elder; N A Kalsheker; O W Marsh; P R Harrison; B Grandchamp; C Picat; Y Nordmann; P H Romeo; M Goossens
Journal:  Lancet       Date:  1987-09-26       Impact factor: 79.321
  7 in total
  20 in total

1.  Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).

Authors:  C Solis; I Lopez-Echaniz; D Sefarty-Graneda; K H Astrin; R J Desnick
Journal:  Mol Med       Date:  1999-10       Impact factor: 6.354

Review 2.  Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Authors:  Makiko Yasuda; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2019-01-18       Impact factor: 4.797

Review 3.  Hepatic porphyrias in children.

Authors:  G H Elder
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

Review 4.  Molecular genetics of disorders of haem biosynthesis.

Authors:  G H Elder
Journal:  J Clin Pathol       Date:  1993-11       Impact factor: 3.411

Review 5.  The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria.

Authors:  P D Brownlie; R Lambert; G V Louie; P M Jordan; T L Blundell; M J Warren; J B Cooper; S P Wood
Journal:  Protein Sci       Date:  1994-10       Impact factor: 6.725

Review 6.  Porphobilinogen deaminase gene structure and molecular defects.

Authors:  J C Deybach; H Puy
Journal:  J Bioenerg Biomembr       Date:  1995-04       Impact factor: 2.945

Review 7.  Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.

Authors:  J Hessels; G Voortman; A van der Wagen; C van der Elzen; H Scheffer; F M J Zuijderhoudt
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

8.  Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

Authors:  Sonia Clavero; David F Bishop; Mark E Haskins; Urs Giger; Raili Kauppinen; Robert J Desnick
Journal:  Hum Mol Genet       Date:  2009-11-24       Impact factor: 6.150

9.  Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.

Authors:  G Lundin; A Wedell; S Thunell; M Anvret
Journal:  Hum Genet       Date:  1994-01       Impact factor: 4.132

10.  Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation.

Authors:  M Daimon; K Yamatani; M Igarashi; N Fukase; Y Morita; A Ogawa; M Tominaga; H Sasaki
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132
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