Genetic and enzymatic features of the acute hepatic porphyrias.
| Disease (Abbreviation) . | Inheritance Number‡ . | Deficient Enzymes (Synonyms; Sequence in Pathway) . | Subcellular Locations . | Enzyme Activity% of normal . | Known Mutations, n† . | Gene Locus . | OMIM . |
|---|---|---|---|---|---|---|---|
| * Acute intermittent porphyria is the most prevalent and 5-aminolevulinic acid-dehydratase deficient porphyria is the least prevalent of these diseases in the United States. | |||||||
| Abbreviations: ALA, 5-aminolevulinic acid (d-aminolevulinic acid); HMB, hydroxymethylbilane; OMIM, Online Mendelian Inheritance in Man; PBG, porphobilinogen. | |||||||
| † Human Gene Mutation Database (www.hgmd.org) as of 14 October 2004. | |||||||
| ‡ Online Mendelian Inheritance in Man (for additional information on disease and its genetics) (www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM) | |||||||
| § Formerly known as uroporphyrinogen I synthase. | |||||||
| Reprinted with permission from Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med . 2005 ;142 :439 –450. | |||||||
| Acute intermittent porphyria (AIP) | Autosomal dominant | PBG deaminase (HMB synthase; third)§ | Cytosolic | ~ 50 | 227 | 11q23.3 | 176000 |
| Hereditary coproporphyria | Autosomal dominant | Coproporphyrinogen oxidase (sixth) | Mitochondrial | ~ 50 | 36 | 3q12 | +121300 |
| Variegate porphyria (VP) | Autosomal dominant | Protoporphyrinogen oxidase (seventh) | Mitochondrial | ~ 50 | 120 | 1q22 | #176200 |
| ALA-dehydratase deficient porphyria (ADP) | Autosomal recessive | ALA dehydratase (porphobilinogen syntase; second) | Cytosolic | ~ 5 | 7 | 9q34 | +125270 |
| Disease (Abbreviation) . | Inheritance Number‡ . | Deficient Enzymes (Synonyms; Sequence in Pathway) . | Subcellular Locations . | Enzyme Activity% of normal . | Known Mutations, n† . | Gene Locus . | OMIM . |
|---|---|---|---|---|---|---|---|
| * Acute intermittent porphyria is the most prevalent and 5-aminolevulinic acid-dehydratase deficient porphyria is the least prevalent of these diseases in the United States. | |||||||
| Abbreviations: ALA, 5-aminolevulinic acid (d-aminolevulinic acid); HMB, hydroxymethylbilane; OMIM, Online Mendelian Inheritance in Man; PBG, porphobilinogen. | |||||||
| † Human Gene Mutation Database (www.hgmd.org) as of 14 October 2004. | |||||||
| ‡ Online Mendelian Inheritance in Man (for additional information on disease and its genetics) (www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM) | |||||||
| § Formerly known as uroporphyrinogen I synthase. | |||||||
| Reprinted with permission from Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med . 2005 ;142 :439 –450. | |||||||
| Acute intermittent porphyria (AIP) | Autosomal dominant | PBG deaminase (HMB synthase; third)§ | Cytosolic | ~ 50 | 227 | 11q23.3 | 176000 |
| Hereditary coproporphyria | Autosomal dominant | Coproporphyrinogen oxidase (sixth) | Mitochondrial | ~ 50 | 36 | 3q12 | +121300 |
| Variegate porphyria (VP) | Autosomal dominant | Protoporphyrinogen oxidase (seventh) | Mitochondrial | ~ 50 | 120 | 1q22 | #176200 |
| ALA-dehydratase deficient porphyria (ADP) | Autosomal recessive | ALA dehydratase (porphobilinogen syntase; second) | Cytosolic | ~ 5 | 7 | 9q34 | +125270 |