CARNOSINURIA, CARNOSINEMIA

Disease	CARNOSINURIA, CARNOSINEMIA
Synonym	CARNOSINASE DEFICIENCY
OMIM	212200 OMIM = Online Mendelian Inheritance of Men
Orphanet	1361
ExPASy	3.4.13.20
Gene locus	18q21.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Carnosinemia (carnosinase)
ICD	E70.8
Summary	rare (~30 cases) autosomal recessive
Laboratory findings	Anserine inc (urine) Carnosinase dec (serum) Carnosine inc (urine) Carnosine inc (serum) Homocarnosine inc (cerebrospinal fluid)
Symptoms	Amino acids, plasma Amino acids, urine hearing defect, deafness mental retardation no clinical symptoms (probably) onset, adolescent onset, childhood onset, infancy onset, neonatal seizures seizures, myoclonic