Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon

Lea Nicole Sayegh,Rose T. Daher,Amina Bassyouni, Pascale E. Karam

Clinical Biochemistry(2020)

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摘要
•Newborn screening for biotinidase deficiency is not available yet in several countries.•This is the first report of symptomatic patients from Lebanon, Syria and Iraq.•Unusual outcome with reversible hearing loss and unreported mutations are described.•No reliable biomarker of Biotin responsiveness is available for long term management.
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关键词
Biotinidase deficiency,Newborn screening,Hearing loss,C5OH
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