Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults

•Biotinidase deficiency is a rare autosomal metabolic disorder.•It is easily tested by measuring biotinidase activity in serum or through whole blood spotted on filter paper in newborns.•Newborn screening tests are available since 1984, but not globally implemented.•Symptoms usually present in child...

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Veröffentlicht in:	Multiple sclerosis and related disorders 2019-07, Vol.32, p.64-65
Hauptverfasser:	Van Iseghem, V., Sprengers, M., De Zaeytijd, J., Sindic, C.J.M., Willekens, B., Dermaut, B., Hemelsoet, D., Laureys, G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biotin - administration & dosage Biotinidase Deficiency - diagnostic imaging Biotinidase Deficiency - drug therapy Biotinidase Deficiency - genetics Demyelinating disease Humans Male Metabolic disease (inherited) Optic Atrophy - diagnostic imaging Optic Atrophy - drug therapy Optic Atrophy - genetics Optic nerve Spinal cord Spinal Cord Diseases - diagnostic imaging Spinal Cord Diseases - drug therapy Spinal Cord Diseases - genetics Visual loss Young Adult
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