Description:
PORPHYRIA, ACUTE INTERMITTENT
HYDROXYMETHYLBILANE SYNTHASE; HMBS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
HMBS |
| Chromosomal Location |
11q23.3 |
| Allelic Variant 1 |
609806.0001; PORPHYRIA, ACUTE INTERMITTENT |
| Identified Mutation |
IVS1DS, G-A, +1; Grandchamp et al. (1989) identified the first mutation in the human porphobilinogen deaminase gene: a single base substitution (G to A) in the canonical 5-prime splice donor site of intron 1. This mutation leads to a particular subtype of acute intermittent porphyria (Desnick et al., 1985) characterized by the restriction of the enzymatic defect to nonerythropoietic tissues. Hybridization analysis using oligonucleotide probes after in vitro amplification of genomic DNA offers another possibility of detecting asymptomatic carriers of the mutation in affected families. The family lived in Holland.
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| Remarks |
Nausea, vomiting, and abdominal pain during crises (approx 8 per year); neuropathy and muscle weakness; porphobilinogen deaminase RBC activity is within the normal range; high urinary levels of delta-aminolevulinic acid and porphobilinogen; donor subject is heterozygous for a G>A transition in intron 1 of the HMBS gene (IVS1+1G>A) |
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