Porphyria due to ALA dehydratase deficiency

Orpha code: 100924OMIM code: 612740

Definition

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
Classification

Disease

Synonyms
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
ORPHA code
100924
OMIM code
612740
ICD10 code
E80.2
ICD11 code
-

No additional description.

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