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Summary
HOMOCARNOSINOSIS
236130
OMIM = Online Medalian Inheritance of Men
2168
very rare
autosomal dominant ?
Serum carnosinase deficiency and homocarnosinosis are probably the same disorder.
symptoms
hypotonia
mental retardation
onset, childhood
retinitis pigmentosa
spastic diplegia/quadriplegia
laboratory finding
Homocarnosine increasedcerebrospinal fluid
Literature
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Rafique RSchapira AH, Coper JMMitochondrial respiratory chain dysfunction in ageing influence of vitamin E deficiencyFree Radic Res382157-1652004
Morley Set al.Molecular determinants of heritable vitamin E deficiencyBiochemistry43144143-41492004
Meier Ret al.The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer proteinJ Mol Biol3313725-7342003
Subramanian IVanek ZF, Bronstein JMDiagnosis and treatment of Wilsons diseaseCurr Neurol Neurosci Rep24317-3232002