Porphyria due to ALA dehydratase deficiency

Orpha code: 100924OMIM code: 612740

Definicja

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

Disease data
Klasyfikacja

Disease

Synonimy
ALAD porphyria
Porfiria ALAD
Porfiria Doss
Porfiria z powodu niedoboru ALAD
Porfiria z powodu niedoboru dehydratazy kwasu delta-aminolewulinowego
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
Kod ORPHA
100924
Kod OMIM
612740
Kod ICD10
E80.2
Kod ICD11
-

No additional description.

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