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Neurologic Disease in a Child With Hepatoerythropoietic Porphyria
Author(s) -
Parsons Jessica L.,
Sahn Eleanor E.,
Holden Kenton R.,
Pai G. Shashidhar
Publication year - 1994
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1994.tb00589.x
Subject(s) - porphyria , medicine , uroporphyrinogen iii decarboxylase , hypertrichosis , urine , dermatology , endocrinology , gastroenterology , pathology , pediatrics , heme , enzyme , nuclear magnetic resonance , physics
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.