Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening
| Autor: | Carlo Dionisi-Vici, Daniela Semeraro, Ines Bucci, Vincenzo De Laurenzi, Claudia Rossi, Damiana Pieragostino, Ilaria Cicalini, Cristiano Rizzo, Liborio Stuppia, Silvia Di Michele, Mirco Zucchelli, Sara Verrocchio |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Vitamin
medicine.medical_specialty biotinidase deficiency Health Toxicology and Mutagenesis lcsh:Medicine Case Report inborn errors of metabolism 03 medical and health sciences chemistry.chemical_compound Biotin Internal medicine medicine 030304 developmental biology mass spectrometry 0303 health sciences Newborn screening newborn screening Biotinidase deficiency 030305 genetics & heredity lcsh:R Public Health Environmental and Occupational Health metabolic profiling Metabolism medicine.disease Pyruvate carboxylase Endocrinology chemistry Biotinidase Multiple carboxylase deficiency |
| Zdroj: | International Journal of Environmental Research and Public Health International Journal of Environmental Research and Public Health, Vol 18, Iss 1659, p 1659 (2021) |
| ISSN: | 1660-4601 1661-7827 |
| Popis: | 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 detect both variants. Moreover, mild metabolic alterations related to carboxylase deficiency in profound BTD deficiency could result and possibly be revealed in the metabolic profile by tandem mass spectrometry (MS/MS) NBS. Here, we report the case of a newborn female infant with an initial suspected BTD deficiency at the NBS test, finally confirmed as a partial variant by molecular testing. Although BTD deficiency was partial, interestingly her metabolic profile at birth and during the follow-up tests revealed, for the first time, alterations in specific acylcarnitines as a possible result of the deficient activity of biotin-dependent carboxylases. |
| Databáze: | OpenAIRE |
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