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Variant acute intermittent porphyria in a child
N R Badcock1, G D Zoanetti, D A O'Reilly
1Department of Chemical Pathology, Adelaide Children's Hospital, Australia.
Clinical Chemistry
|May 1, 1990
Summary
This study details a child with acute porphyria, presenting with increased porphyrin excretion and rose-colored urine. Symptoms resolved with nutritional support and medication withdrawal, despite normal enzyme activity.
Area of Science:
- Biochemistry
- Pediatrics
- Clinical Medicine
Background:
- Acute porphyrias are rare metabolic disorders.
- Typically present in adulthood with neurological and psychiatric symptoms.
- Genetic factors often play a role in disease development.
Observation:
- A pre-pubertal child presented with gross malnutrition and symptoms consistent with acute porphyria.
- Increased urinary excretion of porphyrins and porphyrin precursors was noted.
- Rose-colored urine was observed, a characteristic symptom.
Findings:
- Erythrocyte porphobilinogen deaminase and leukocyte protoporphyrinogen oxidase activities were normal.
- The patient had no family history of porphyria and presented before puberty.
- Symptoms resolved spontaneously after discontinuing carbamazepine and sodium valproate, and initiating parenteral nutrition with carbohydrate loading.
Implications:
- This case highlights a unique presentation of acute porphyria in a child.
- Suggests that environmental factors, such as medication and nutrition, can trigger porphyria episodes.
- Normal enzyme activity in this case challenges typical diagnostic criteria and warrants further investigation into atypical porphyria mechanisms.