homocarnosinosis


homocarnosinosis
An inborn error in metabolism in which homocarnosine levels are elevated, particularly in the cerebral spinal fluid.

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ho·mo·car·no·sin·o·sis (ho″mo-kahr″no-sĭ-noґsis) an autosomal recessive aminoacidopathy characterized by accumulation of homocarnosine in cerebrospinal fluid and the brain but not in plasma or urine, accompanied by carnosinuria. Progressive spastic paraplegia, mental deterioration, and retinal pigmentation may be sequelae. The disorder is due to deficiency of the serum isozyme of X-His dipeptidase, but its relationship to serum carnosinase deficiency (q.v.) has not been elucidated.

Medical dictionary. 2011.

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  • serum carnosinase deficiency — an autosomal recessive aminoacidopathy of carnosine metabolism, due to deficiency of the serum isozyme of X His dipeptidase; it is characterized by urinary excretion of carnosine and accumulation of homocarnosine in the cerebrospinal fluid and… …   Medical dictionary