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:C0011053 (
deafness
)
10,271
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 15-year-old male patient presented with mental retardation, mild motor impairment, and partial
deafness
. Biochemical investigations showed an abnormal urinary profile of leukotrienes. Concentration of leukotriene D(4) (LTD(4)), which is usually not detectable, was highly increased, whereas LTE(4), the major urinary metabolite in humans, was completely absent. These data suggest membrane-bound
dipeptidase
deficiency, a new defect in leukotriene biosynthesis on the step of LTE(4) synthesis, as underlying defect.
...
PMID:A patient with neurological symptoms and abnormal leukotriene metabolism: a new defect in leukotriene biosynthesis. 1631 85
