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: EC:2.5.1.61 (
porphobilinogen deaminase
)
637
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Acute intermittent porphyria (AIP) and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of
porphobilinogen deaminase
enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and
paresthesias
lead us to the diagnosis of AIP. The precipitating factor in the present case was prolonged fasting in Ramadan.
...
PMID:A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy. 2991 73
