RGD Reference Report - Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. - Rat Genome Database

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Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria.

Authors: Lindberg, RL  Porcher, C  Grandchamp, B  Ledermann, B  Burki, K  Brandner, S  Aguzzi, A  Meyer, UA 
Citation: Lindberg RL, etal., Nat Genet. 1996 Feb;12(2):195-9.
RGD ID: 4145271
Pubmed: PMID:8563760   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0296-195   (Journal Full-text)

Acute intermittent porphyria (AIP) is a human disease resulting from a dominantly inherited partial deficiency of the heme biosynthetic enzyme, porphobilinogen deaminase (PBGD). The frequency of the trait for AIP is 1/10,000 in most populations, but may be markedly higher (1/500) in psychiatric patients. The clinical expression of the disease is characterized by acute, life-threatening attacks of 'porphyric neuropathy' that include abdominal pain, motor and sensory neurological deficits and psychiatric symptoms. Attacks are frequently precipitated by drugs, alcohol and low caloric intake. Identical symptoms occur in other hepatic porphyrias. To study the pathogenesis of the neurologic symptoms of AIP we have generated Pbgd-deficient mice by gene targeting. These mice exhibit the typical biochemical characteristics of human AIP, notably, decreased hepatic Pbgd activity, increased delta-aminolevulinic acid synthase activity and massively increased urinary excretion of the heme precursor, delta-aminolevulinic acid after treatment with drugs such as phenobarbital. Behavioural tests reveal decreased motor function and histopathological findings include axonal neuropathy and neurologic muscle atrophy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
acute intermittent porphyria  ISOHmbs (Mus musculus)4145271; 4145271 RGD 
acute intermittent porphyria  IMP 4145271 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Hmbs  (hydroxymethylbilane synthase)

Genes (Mus musculus)
Hmbs  (hydroxymethylbilane synthase)

Genes (Homo sapiens)
HMBS  (hydroxymethylbilane synthase)

Objects referenced in this article
Gene PPOX protoporphyrinogen oxidase Homo sapiens
Gene Ppox protoporphyrinogen oxidase Mus musculus
Gene Ppox protoporphyrinogen oxidase Rattus norvegicus

Additional Information