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| C. Neto,E.; Schulte,J.; Rubim,R.; Lewis,E.; DeMari,J.; Castilhos,C.; Brites,A.; Giugliani,R.; Jensen,K.P.; Wolf,B.. |
| Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms. Fortunately, it can be treated and the symptoms prevented by oral administration of the vitamin biotin. Using dried blood-soaked filter paper cards, biotinidase activity was determined in the sera of 225,136 newborns in Brazil. Mutation analysis performed on DNA from 21 babies with low serum biotinidase activity confirmed that 3 had profound biotinidase deficiency (less than 10% of mean normal sera biotinidase activity), 10 had partial biotinidase deficiency (10 to 30% of mean normal serum activity), 1 was homozygous for partial biotinidase deficiency, 4 were heterozygous for either profound or partial deficiency, and 3 were normal. Variability... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Newborn screening; Biotinidase deficiency; Biotinidase; Mutations; Enzyme assay. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000300001 |
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| Cozzolino,Carla; Villani,Guglielmo RD; Frisso,Giulia; Scolamiero,Emanuela; Albano,Lucia; Gallo,Giovanna; Romanelli,Roberta; Ruoppolo,Margherita. |
| Abstract 3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2 genes, leads to accumulation of 3-methylcrotonyl-CoA metabolites in blood and/or urine, primarily 3-hydroxyisovaleryl-carnitine (C5-OH) in plasma and 3-methylcrotonyl-glycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA) in the urine. The phenotype of 3-MCC deficiency is highly variable, ranging from severe neurological abnormalities and death in infancy to asymptomatic adults. Here we report the biochemical and molecular characterization of an Italian... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 3-Methylcrotonylglycinuria; MCCC2 mutations; 3-methylcrotonyl-CoA carboxylase deficiency; Newborn screening; Organic aciduria. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300379 |
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