Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0018681 (
headache
)
56,091
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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 disorder of heme synthesis that should be considered in the differential diagnosis of exertional fatigue and
headaches
in athletes. When other more common causes of fatigue and/or
headache
are unable to be identified, a more focused history and examination may lead to a more unusual but crucial diagnosis. To our knowledge, there are no reported cases of this condition in Division I collegiate athletes.
...
PMID:An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete. 2865 68
