Hum Genet. 1992 Apr;89(1):97-8.

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

Llewellyn DH, Smyth SJ, Elder GH, Hutchesson AC, Rattenbury JM, Smith MF.

Source

Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.

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.

PMID:: 1577472; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Research Support, Non-U.S. Gov't

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

EBSCO

Medical

Supplemental Content

Save items

Related citations in PubMed

Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene. [Hum Genet. 1990]
Acute intermittent porphyria caused by a C----T mutation that produces a stop codon in the porphobilinogen deaminase gene.
Scobie GA, Llewellyn DH, Urquhart AJ, Smyth SJ, Kalsheker NA, Harrison PR, Elder GH. Hum Genet. 1990 Oct; 85(6):631-4.
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. [Proc Natl Acad Sci U S A. 1991]
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria.
Lee JS, Anvret M. Proc Natl Acad Sci U S A. 1991 Dec 1; 88(23):10912-5.
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. [J Clin Invest. 1990]
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
Delfau MH, Picat C, de Rooij FW, Hamer K, Bogard M, Wilson JH, Deybach JC, Nordmann Y, Grandchamp B. J Clin Invest. 1990 Nov; 86(5):1511-6.
Review Acute intermittent porphyria: laboratory diagnosis by molecular methods. [Clin Lab Med. 1995]
Review Acute intermittent porphyria: laboratory diagnosis by molecular methods.
Schreiber WE. Clin Lab Med. 1995 Dec; 15(4):943-56.
Review Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors. [J Inherit Metab Dis. 2004]
Review Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.
Hessels J, Voortman G, van der Wagen A, van der Elzen C, Scheffer H, Zuijderhoudt FM. J Inherit Metab Dis. 2004; 27(1):19-27.

See reviews... See all...

Cited by 4 PubMed Central articles

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. [Hum Mol Genet. 2010]
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Hum Mol Genet. 2010 Feb 15; 19(4):584-96. Epub 2009 Nov 24.
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP). [Mol Med. 1999]
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
Solis C, Lopez-Echaniz I, Sefarty-Graneda D, Astrin KH, Desnick RJ. Mol Med. 1999 Oct; 5(10):664-71.
Review Molecular genetics of disorders of haem biosynthesis. [J Clin Pathol. 1993]
Review Molecular genetics of disorders of haem biosynthesis.
Elder GH. J Clin Pathol. 1993 Nov; 46(11):977-81.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Homozygous acute intermittent porphyria: compound heterozygosity for adjacent ba...
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
Hum Genet. 1992 Apr ;89(1):97-8.

PubMed
Maintenance of spermatogenesis requires TAF4b, a gonad-specific subunit of TFIID...
Maintenance of spermatogenesis requires TAF4b, a gonad-specific subunit of TFIID.
Genes Dev. 2005 Apr 1 ;19(7):794-803. Epub 2005 Mar 17 .

PubMed
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and hig...
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis.
Hum Genet. 1992 Apr ;89(1):49-53.

PubMed
Role of molecular mimicry to HIV-1 peptides in HIV-1-related immunologic thrombo...
Role of molecular mimicry to HIV-1 peptides in HIV-1-related immunologic thrombocytopenia.
Blood. 2005 Jul 15 ;106(2):572-6. Epub 2005 Mar 17 .

PubMed
Acid ceramidase overexpression prevents the inhibitory effects of saturated fatt...
Acid ceramidase overexpression prevents the inhibitory effects of saturated fatty acids on insulin signaling.
J Biol Chem. 2005 May 20 ;280(20):20148-53. Epub 2005 Mar 17 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: