Inherited biotin-responsive disorders

Barry Wolf

doi:10.1016/B978-0-12-813955-4.00052-0

Inherited biotin-responsive disorders

Barry Wolf^*

^*Corresponding author for this work

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

There are three inherited biotin-responsive inherited disorders, holocarboxylase synthetase deficiency, biotinidase deficiency, and biotin-thiamine-responsive basal ganglia disease. Most importantly, the symptoms of each disorder can be improved or prevented by early detection and treatment with pharmacological doses of biotin (more than 1 mg of biotin/day). Untreated, symptomatic individuals usually develop a variety of neurological symptoms, some of which are caused by secondary biotin deficiency or the accumulation of abnormal organic acids associated with multiple carboxylase deficiency. In one of these disorders, although biotin is beneficial, its actual function is still speculative. In addition, there are two single case reports of individuals with biotin-responsive disorders due to biotin-transport defects. This chapter will discuss these biotin-responsive disorders.

Original language	English (US)
Title of host publication	Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publication	Volume 1
Publisher	Elsevier
Pages	699-710
Number of pages	12
ISBN (Electronic)	9780128139554
DOIs	https://doi.org/10.1016/B978-0-12-813955-4.00052-0
State	Published - Jan 1 2020

Keywords

Basal ganglia disease
Biotin
Biotin transport
Biotinidase deficiency
Holocarboxylase synthetase deficiency
Neurocutaneous disorder
Vitamin responsive

ASJC Scopus subject areas

General Medicine

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10.1016/B978-0-12-813955-4.00052-0

Cite this

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title = "Inherited biotin-responsive disorders",

abstract = "There are three inherited biotin-responsive inherited disorders, holocarboxylase synthetase deficiency, biotinidase deficiency, and biotin-thiamine-responsive basal ganglia disease. Most importantly, the symptoms of each disorder can be improved or prevented by early detection and treatment with pharmacological doses of biotin (more than 1 mg of biotin/day). Untreated, symptomatic individuals usually develop a variety of neurological symptoms, some of which are caused by secondary biotin deficiency or the accumulation of abnormal organic acids associated with multiple carboxylase deficiency. In one of these disorders, although biotin is beneficial, its actual function is still speculative. In addition, there are two single case reports of individuals with biotin-responsive disorders due to biotin-transport defects. This chapter will discuss these biotin-responsive disorders.",

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N2 - There are three inherited biotin-responsive inherited disorders, holocarboxylase synthetase deficiency, biotinidase deficiency, and biotin-thiamine-responsive basal ganglia disease. Most importantly, the symptoms of each disorder can be improved or prevented by early detection and treatment with pharmacological doses of biotin (more than 1 mg of biotin/day). Untreated, symptomatic individuals usually develop a variety of neurological symptoms, some of which are caused by secondary biotin deficiency or the accumulation of abnormal organic acids associated with multiple carboxylase deficiency. In one of these disorders, although biotin is beneficial, its actual function is still speculative. In addition, there are two single case reports of individuals with biotin-responsive disorders due to biotin-transport defects. This chapter will discuss these biotin-responsive disorders.

AB - There are three inherited biotin-responsive inherited disorders, holocarboxylase synthetase deficiency, biotinidase deficiency, and biotin-thiamine-responsive basal ganglia disease. Most importantly, the symptoms of each disorder can be improved or prevented by early detection and treatment with pharmacological doses of biotin (more than 1 mg of biotin/day). Untreated, symptomatic individuals usually develop a variety of neurological symptoms, some of which are caused by secondary biotin deficiency or the accumulation of abnormal organic acids associated with multiple carboxylase deficiency. In one of these disorders, although biotin is beneficial, its actual function is still speculative. In addition, there are two single case reports of individuals with biotin-responsive disorders due to biotin-transport defects. This chapter will discuss these biotin-responsive disorders.

KW - Basal ganglia disease

KW - Biotin

KW - Biotin transport

KW - Biotinidase deficiency

KW - Holocarboxylase synthetase deficiency

KW - Neurocutaneous disorder

KW - Vitamin responsive

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EP - 710

BT - Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease

PB - Elsevier

ER -

Inherited biotin-responsive disorders

Abstract

Keywords

ASJC Scopus subject areas

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