D-glyceric aciduria

Anais da Academia Brasileira de Ciências

NÁdia W. Dimer¹  PatrÍcia F. Schuck¹  Emilio L. Streck¹  Gustavo C. Ferreira¹ 

关键词: D-glycerate;    D-glyceric aciduria;    glycerate kinase;    glyceric acid;    organic acidurias;    D-glicerato;    acidúria D-glicérica;    glicerato cinase;    ácido glicérico;    acidurias orgânicas;   

DOI  :  10.1590/0001-3765201520150021

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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