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Summary
FISH-EYE DISEASE
FED
136120
OMIM = Online Medalian Inheritance of Men
79292
16q22.1
very rare
autosomal recessive
fish-eye disease is one form of LCAT deficiency
symptoms
corneal arcus
corneal clouding
corneal deposits
renal dysfunction, renal defects
laboratory finding
Triglycerides increasedserum
HDL cholesterol decreasedserum
Literature
Baerlocher KDisorders of copper and zinc metabolismPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00467-4811996
Danboldt M,Closs KAcrodermatitis enterohepathicaActa Derm Venerol230127-1691942
Baerlocher KDisorders of copper and zinc metabolismPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00467-4811996
Packman Wet al.Psychological complications of patients with Gaucher disease J Inherit Metab Dis29199-1052006
Lehnert WSass JOGlutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)Med Hypotheses652330-3332005
Teresa Eet al.A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: Identification of three novel mutations of the FM03 geneMol Genet Metab002006