SciELO - Scientific Electronic Library Online

 
vol.87 issue2  suppl.Antioxidant, analgesic and anti-inflammatory effects of lavender essential oilEfficacy of Topical 5% Acyclovir-1% Hydrocortisone Cream (ME-609) for Treatment of Herpes Labialis: a systematic review author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Anais da Academia Brasileira de Ciências

Print version ISSN 0001-3765On-line version ISSN 1678-2690

Abstract

DIMER, NÁDIA W.; SCHUCK, PATRÍCIA F.; STRECK, EMILIO L.  and  FERREIRA, GUSTAVO C.. D-glyceric aciduria. An. Acad. Bras. Ciênc. [online]. 2015, vol.87, n.2, suppl., pp.1409-1414.  Epub Aug 04, 2015. ISSN 0001-3765.  https://doi.org/10.1590/0001-3765201520150021.

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.

Keywords : D-glycerate; D-glyceric aciduria; glycerate kinase; glyceric acid; organic acidurias.

        · abstract in Portuguese     · text in English     · English ( pdf )