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porphyria due to ALA dehydratase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.
Uniprot Description A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
Mondo Term and Equivalent IDs
MONDO:0013000:  porphyria due to ALA dehydratase deficiency
GARD:0004445: 
MESH:C562618: 
NCIT:C133887: 
Orphanet:100924: