Ontology highlight
ABSTRACT:
SUBMITTER: Makki AY
PROVIDER: S-EPMC5491239 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine 20170701 4
Variegate porphyria (VP) is an autosomal dominant disorder of porphyrin metabolism. We report a case of a 21-year-old male collegiate athlete who complained of recurrent headache and fatigue. Extensive testing after initial presentation failed to identify a cause. Months later, his grandmother was diagnosed with VP after being hospitalized; hence, he was tested. He was positive for a heterozygous missense mutation, R168H, in one protoporphyrinogen oxidase allele. This case highlights a rare diso ...[more]