Tyrosinemia with acute intermittent porphyria: aminolevulinic acid dehydratase deficiency related to elevated urinary aminolevulinic acid levels
| Autor: | H.G. Petering, Edward A. Emmett, Helen K. Berry, Vincent N. Finelli, C. Frederic Strife, Edward L. Zuroweste |
|---|---|
| Rok vydání: | 1977 |
| Předmět: |
medicine.medical_specialty
Adolescent Urinary system Plasma renin activity Tyrosinemia Porphyrias Catecholamines Internal medicine Renin medicine Humans Amino Acid Metabolism Inborn Errors Hydro-Lyases Acute intermittent porphyria biology business.industry Porphobilinogen Synthase Aminolevulinic Acid medicine.disease Enzyme assay Levulinic Acids Red blood cell Endocrinology medicine.anatomical_structure Porphyria Pediatrics Perinatology and Child Health Zinc deficiency biology.protein Tyrosine Female business |
| Zdroj: | The Journal of pediatrics. 90(3) |
| ISSN: | 0022-3476 |
| Popis: | A patient who had hereditary tyrosinemia was observed during two illnesses to have characteristics of acute intermittent porphyria with associated hypertension. Metabolic studies revealed elevated levels of urinary aminolevulinic acid but normal levels of porphyrin metabolites associated with, and possibly explained by, decreased red blood cell activity of the zinc-dependent enzyme, aminolevulinic acid dehydratase. Zinc deficiency could not be directly associated with the diminished enzyme activity. The patient's hypertension appeared to be related to increased urinary excretion of catecholamines and to elevated renin activity in peripheral venous blood. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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