Hepatic porphyria
MONDO:0002520A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
Also known as: ALAD deficiency, Delta-aminolevulinate dehydratase deficiency, hepatic porphyria, liver porphyria, porphobilinogen synthase deficiency, porphyria of liver, acute hepatic porphyria, acute porphyria
23 clinical trials for this condition and its sub-types, 4 tagged with Hepatic porphyria itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Hepatic porphyria
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Erythropoietic protoporphyria 15 trials
2 sub-types
- X-linked erythropoietic protoporphyria 10 trials
- Autosomal erythropoietic protoporphyria 0 trials · 3 incl. sub-types Sub-types →
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Hereditary coproporphyria 5 trials
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HMBS-related hepatic porphyria 0 trials · 5 incl. sub-types
4 sub-types
- Acute intermittent porphyria 5 trials
- Encephalopathy, porphyria-related 0 trials
- Leukoencephalopathy, porphyria-related 0 trials
- Porphyria, acute intermittent, nonerythroid variant 0 trials
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PPOX-related hepatic porphyria 0 trials · 2 incl. sub-types
1 sub-type
- Variegate porphyria 2 trials Sub-types →
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Porphyria cutanea tarda 0 trials · 1 incl. sub-types
3 sub-types
- Familial porphyria cutanea tarda 1 trial
- Hepatoerythropoietic porphyria 0 trials
- Sporadic porphyria cutanea tarda 0 trials
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Hepatic cutaneous porphyria 0 trials