Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.

ABSTRACT: Biotinidase (BTD) deficiency is an autosomal recessive inherited neurocutaneous disorder. BTD recycles the vitamin biotin, a coenzyme essential for the function of four biotin-dependent carboxylases, including propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase, pyruvate carboxylase, and acetyl-CoA carboxylase. Due to deficient activities of the carboxylases, BTD deficiency is also recognized as late-onset multiple carboxylase deficiency and is associated with secondary alterations in the metabolism of amino acids, carbohydrates, and fatty acids. BTD deficiency can be classified as "profound", with less than 10% of mean normal activity, and as "partial" with 10-30% of mean normal activity. Newborn screening (NBS) of BTD deficiency is performed in most countries and is able to detec

SUBMITTER: Cicalini I 

PROVIDER: S-EPMC7916230 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature