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Multiple carboxylase deficiency
- ... biotin effectively. This disorder is classified as a multiple carboxylase deficiency, which is a group of disorders characterized by ... A-carboxylase) ligase deficiency Early-onset biotin-responsive multiple carboxylase deficiency Early-onset combined carboxylase deficiency HLCS deficiency Infantile ...
- ... deficiency, the condition is considered a form of multiple carboxylase deficiency.Mutations in the BTD gene reduce or eliminate ... deficiency, multiple, late-onset Late-onset biotin-responsive multiple carboxylase deficiency Late-onset multiple carboxylase deficiency Multiple carboxylase deficiency, ...
- ... RA. Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. Mol Genet Metab. 1999 Feb;66(2):80- ... in brain and liver and implications for inherited multiple carboxylase deficiency. J Biol Chem. 2004 Dec 10;279(50): ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
