Biotinidase deficiency: Accumulation of lactate in the brain and response to physiologic doses of biotin

Nicholas Diamantopoulos; Michael J. Painter; Barry Wolf; Gregory S. Heard; Charles Roe

Biotinidase deficiency: Accumulation of lactate in the brain and response to physiologic doses of biotin

Nicholas Diamantopoulos, Michael J. Painter^*, Barry Wolf, Gregory S. Heard, Charles Roe

^*Corresponding author for this work

Pediatrics

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

35 Scopus citations

Abstract

Biotinidase deficiency is the most common cause of late onset, biotin-responsive multiple carboxylase deficiency (MCD). We studied the two oldest known boys with this disorder who had high CSF content of lactate that could have contributed to the clinical disorder. The symptoms of these patients implied that near physiologic, rather than pharmacologic, doses of biotin may be sufficient for treatment.

Original language	English (US)
Pages (from-to)	1107-1109
Number of pages	3
Journal	Neurology
Volume	36
Issue number	8
State	Published - Aug 1986

ASJC Scopus subject areas

Clinical Neurology

Cite this

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title = "Biotinidase deficiency: Accumulation of lactate in the brain and response to physiologic doses of biotin",

abstract = "Biotinidase deficiency is the most common cause of late onset, biotin-responsive multiple carboxylase deficiency (MCD). We studied the two oldest known boys with this disorder who had high CSF content of lactate that could have contributed to the clinical disorder. The symptoms of these patients implied that near physiologic, rather than pharmacologic, doses of biotin may be sufficient for treatment.",

author = "Nicholas Diamantopoulos and Painter, {Michael J.} and Barry Wolf and Heard, {Gregory S.} and Charles Roe",

year = "1986",

month = aug,

language = "English (US)",

volume = "36",

pages = "1107--1109",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "8",

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TY - JOUR

T1 - Biotinidase deficiency

T2 - Accumulation of lactate in the brain and response to physiologic doses of biotin

AU - Diamantopoulos, Nicholas

AU - Painter, Michael J.

AU - Wolf, Barry

AU - Heard, Gregory S.

AU - Roe, Charles

PY - 1986/8

Y1 - 1986/8

N2 - Biotinidase deficiency is the most common cause of late onset, biotin-responsive multiple carboxylase deficiency (MCD). We studied the two oldest known boys with this disorder who had high CSF content of lactate that could have contributed to the clinical disorder. The symptoms of these patients implied that near physiologic, rather than pharmacologic, doses of biotin may be sufficient for treatment.

AB - Biotinidase deficiency is the most common cause of late onset, biotin-responsive multiple carboxylase deficiency (MCD). We studied the two oldest known boys with this disorder who had high CSF content of lactate that could have contributed to the clinical disorder. The symptoms of these patients implied that near physiologic, rather than pharmacologic, doses of biotin may be sufficient for treatment.

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M3 - Article

C2 - 3736876

AN - SCOPUS:0022536656

SN - 0028-3878

VL - 36

SP - 1107

EP - 1109

JO - Neurology

JF - Neurology

IS - 8

ER -

Biotinidase deficiency: Accumulation of lactate in the brain and response to physiologic doses of biotin

Abstract

ASJC Scopus subject areas

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