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| DIMER,NÁDIA W.; SCHUCK,PATRÍCIA F.; STRECK,EMILIO L.; FERREIRA,GUSTAVO C.. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: D-glycerate; D-glyceric aciduria; Glycerate kinase; Glyceric acid; Organic acidurias. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652015000301409 |
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| Wajner,Moacir; Sitta,Angela; Kayser,Aline; Deon,Marion; Groehs,Ana C.; Coelho,Daniella M.; Vargas,Carmen R.. |
| Abstract Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell metabolism. Since a considerable number of such disorders are potentially treatable when diagnosed at an early stage of life, diagnosis is crucial for the patients. In the present report, we describe symptomatic individuals referred to our service that were diagnosed with these disorders from 2006 to 2016. We used blood and urine samples from 21,800 patients suspected of aminoacidopathies or organic acidemias that were processed by the analytical techniques reverse phase high-performance liquid... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Organic acidurias; Aminoacidopathies; Inborn errors of metabolism; Selective screening. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200178 |
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