title: D-glyceric aciduria.
abstract: Inherited metabolic diseases are a heterogeneous group of diseases caused by a punctual defect in cell metabolism, resulting in the accumulation of toxic intermediate metabolites or in the lack of important biomolecules for adequate cell functioning. D-glyceric aciduria is an inherited disease caused by a deficiency of glycerate 2-kinase activity, whose pathophysiological mechanisms remain unknown. The main clinical and neurological symptoms seen in affected patients include progressive encephalopathy, hypotonia, psychomotor and mental retardation, microcephaly, seizures, speech delay, metabolic acidosis, and even death. In this review we shall discuss these clinical and biochemical findings, as well as diagnosis and treatment of affected patients in order to raise awareness about this condition.
authors.affiliation: Universidade do Extremo Sul Catarinense, Criciúma, SC, BR.
authors.forename: Nádia W
authors.initials: NW
authors.lastname: Dimer
authors.affiliation: Universidade do Extremo Sul Catarinense, Criciúma, SC, BR.
authors.forename: Patrícia F
authors.initials: PF
authors.lastname: Schuck
authors.affiliation: Universidade do Extremo Sul Catarinense, Criciúma, SC, BR.
authors.forename: Emilio L
authors.initials: EL
authors.lastname: Streck
authors.affiliation: Instituto de Bioquímica Médica Leopoldo de Meis, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, BR.
authors.forename: Gustavo C
authors.initials: GC
authors.lastname: Ferreira
mesh_terms: D005988:Glyceric Acids / Q000378:metabolism / Q000652:urine; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy
chemical_list: D005988:Glyceric Acids