Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two members of a consanguineous Italian family are described with the symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes. Enzyme studies in leucocytes and cultured fibroblasts showed an absence of aspartylglucosaminidase activity. Urinary analysis demonstrated abnormal oligosacchariduria and aspartylglycosamine excretion. Angiokeratoma corporis diffusum was observed in one patient.
 ...
PMID:Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. 678 30

Two members of a consanguineous Italian family are described with symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multi-vacuolated lymphocytes. Enzyme studies in leukocytes showed an absence of aspartylglucosaminidase activity. Urine analysis demonstrated abnormal oligosacchariduria. Angiokeratoma corporis diffusum was observed in one patient. The disease is seen as not being limited to Scandinavia or to patients of Scandinavian descent.
 ...
PMID:Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics. 679 77