Think metabolic in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder

Barry Wolf

doi:10.1212/CPJ.0000000000000379

Think metabolic in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder

Barry Wolf^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Neurologists should consider the possibility of an inherited metabolic disorder in adults with neurologic symptoms that may or may not mimic those seen in affected children, such as in the case of biotinidase deficiency. Because many of these disorders are treatable, they must be included in the differential diagnosis. Technologies, such as specific biochemical analysis and whole exomic sequencing, can assist the clinician by leading to the appropriate diagnosis and treatment. Whole exomic sequencing can identify known and putative mutations in a patient's genome. The neurologist must "think metabolic" in sorting out complex and difficult cases.

Original language	English (US)
Pages (from-to)	518-522
Number of pages	5
Journal	Neurology: Clinical Practice
Volume	7
Issue number	6
DOIs	https://doi.org/10.1212/CPJ.0000000000000379
State	Published - 2017

Funding

B. Wolf serves as an Associate Editor for Molecular Genetics and Metabolism and MedLink Neurology and receives research support from Safra Research Foundation. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

ASJC Scopus subject areas

Clinical Neurology

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10.1212/CPJ.0000000000000379

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AB - Neurologists should consider the possibility of an inherited metabolic disorder in adults with neurologic symptoms that may or may not mimic those seen in affected children, such as in the case of biotinidase deficiency. Because many of these disorders are treatable, they must be included in the differential diagnosis. Technologies, such as specific biochemical analysis and whole exomic sequencing, can assist the clinician by leading to the appropriate diagnosis and treatment. Whole exomic sequencing can identify known and putative mutations in a patient's genome. The neurologist must "think metabolic" in sorting out complex and difficult cases.

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Think metabolic in adults with diagnostic challenges: Biotinidase deficiency as a paradigm disorder

Abstract

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