D-glyceric aciduria.
An Acad Bras Cienc
; 87(2 Suppl): 1409-14, 2015 Aug.
Article
en En
| MEDLINE
| ID: mdl-26247153
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Hiperoxaluria Primaria
/
Ácidos Glicéricos
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Año:
2015
Tipo del documento:
Article