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Summary
HYDROXYLYSINURIA
236900
OMIM = Online Medalian Inheritance of Men
79156
unknown
very rare
autosomal recessive
symptoms
Amino acids, urine
behavior, hyperactive, restless
mental retardation
myoclonus
no clinical signs or symptoms
seizures
laboratory finding
Hydroxylysine 1.00increasedurine
Literature
Barth PGHoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AH, Duran M, Valk J, Schutgens RBH, Trefz FK, Reimann G, HartunL-2-Hydroxyglutaric acid Acidemia: A Novel Inherited Neurometabolic DiseaseAnnals of Neurology32166-711992
Fukao Tet al.The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patientsMol Genet Metab722109-1142001
Bosch AMClassical galactosaemia revisitedJ Inher Met Dis290516-5252006
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994