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Neurologic disease in a child with hepatoerythropoietic porphyria
J L Parsons1, E E Sahn, K R Holden
1Department of Dermatology, Medical University of South Carolina, Charleston.
Insights
Hepatoerythropoietic porphyria (HEP), a rare enzyme deficiency disorder, typically presents with photosensitivity and skin/urine changes. This study documents new central nervous system abnormalities in HEP patients, expanding the known clinical spectrum of this condition.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Hepatoerythropoietic porphyria (HEP) is a rare autosomal recessive disorder caused by deficient uroporphyrinogen decarboxylase activity.
- HEP patients typically present with photosensitivity, red urine, hypertrichosis, and distinct porphyrin profiles.
Abstract:
Hepatoerythropoietic porphyria (HEP) is a rare, autosomal recessive disorder due to deficient uroporphyrinogen decarboxylase enzyme activity. Patients exhibit photosensitivity, red urine, hypertrichosis, and characteristic serum and urine porphyrin profiles. Two siblings had the classic clinical and biochemical findings of HEP. The older patient developed a left-sided hemiparesis accompanied by an abnormal brain magnetic resonance imaging study. Although central nervous system abnormalities are a common feature of other hepatic porphyrias, they have not been previously documented in association with HEP.