5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up.

Article

5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up.

Clinical chemistry - 1 Sept 1998

Gross U, Sassa S, Jacob K, Deybach J C, Nordmann Y, Frank M, Doss M O

Abstract excerpt

5-Aminolevulinic acid dehydratase (ALAD) activity in two patients with compound heterozygous 5-aminolevulinic acid dehydratase deficiency porphyria was studied over the last 20 years. The patients' enzyme activity was <10% from 1977 to 1997. An acute crisis in each patient was successfully treate...

Topics

Adolescent
Aminolevulinic Acid
Arginine
Biomarkers
Erythrocytes
Follow-Up Studies
Glucose
Heme
Humans
Male
Mutation
Porphobilinogen Synthase
Porphyria, Acute Intermittent
Porphyrins

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