Haaruitval als kenmerkend verschijnsel voor biotinidasedeficiëntie

G. Visser; F. Van de Logt; D. J. Reijngoud; K. E. Niezen-Koning; J. P. Rake; G. P.A. Smit

Haaruitval als kenmerkend verschijnsel voor biotinidasedeficiëntie

G. Visser, F. Van de Logt, D. J. Reijngoud, K. E. Niezen-Koning, J. P. Rake, G. P.A. Smit

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

Abstract

A 13 month old girl with biotinidase deficiency is described. Biotinidase deficiency is a disorder in the liberation and reutilisation of biotin. The disorder has a variable clinical presentation. The described patient suffered from alopecia, recurrent infections, convulsions, lethargy, hypotonia, hyperlactactacidemia and increased of excretion 3-hydroxy isovaleric acid and 3-methylerotonylglycine in the urine. Diagnosis was confirmed through decreased bitiotinidase activity in serum. Treatment with free biotine resulted in complete recovery. An overview of clinical symptoms is given.

Original language	Dutch
Pages (from-to)	90-92
Number of pages	3
Journal	Tijdschrift voor Kindergeneeskunde
Volume	66
Issue number	2
Publication status	Published - 1 Dec 1998

Cite this

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title = "Haaruitval als kenmerkend verschijnsel voor biotinidasedefici{\"e}ntie",

abstract = "A 13 month old girl with biotinidase deficiency is described. Biotinidase deficiency is a disorder in the liberation and reutilisation of biotin. The disorder has a variable clinical presentation. The described patient suffered from alopecia, recurrent infections, convulsions, lethargy, hypotonia, hyperlactactacidemia and increased of excretion 3-hydroxy isovaleric acid and 3-methylerotonylglycine in the urine. Diagnosis was confirmed through decreased bitiotinidase activity in serum. Treatment with free biotine resulted in complete recovery. An overview of clinical symptoms is given.",

author = "G. Visser and {Van de Logt}, F. and Reijngoud, {D. J.} and Niezen-Koning, {K. E.} and Rake, {J. P.} and Smit, {G. P.A.}",

year = "1998",

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T1 - Haaruitval als kenmerkend verschijnsel voor biotinidasedeficiëntie

AU - Visser, G.

AU - Van de Logt, F.

AU - Reijngoud, D. J.

AU - Niezen-Koning, K. E.

AU - Rake, J. P.

AU - Smit, G. P.A.

PY - 1998/12/1

Y1 - 1998/12/1

N2 - A 13 month old girl with biotinidase deficiency is described. Biotinidase deficiency is a disorder in the liberation and reutilisation of biotin. The disorder has a variable clinical presentation. The described patient suffered from alopecia, recurrent infections, convulsions, lethargy, hypotonia, hyperlactactacidemia and increased of excretion 3-hydroxy isovaleric acid and 3-methylerotonylglycine in the urine. Diagnosis was confirmed through decreased bitiotinidase activity in serum. Treatment with free biotine resulted in complete recovery. An overview of clinical symptoms is given.

AB - A 13 month old girl with biotinidase deficiency is described. Biotinidase deficiency is a disorder in the liberation and reutilisation of biotin. The disorder has a variable clinical presentation. The described patient suffered from alopecia, recurrent infections, convulsions, lethargy, hypotonia, hyperlactactacidemia and increased of excretion 3-hydroxy isovaleric acid and 3-methylerotonylglycine in the urine. Diagnosis was confirmed through decreased bitiotinidase activity in serum. Treatment with free biotine resulted in complete recovery. An overview of clinical symptoms is given.

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M3 - Article

AN - SCOPUS:2442496508

SN - 0376-7442

VL - 66

SP - 90

EP - 92

JO - Tijdschrift voor Kindergeneeskunde

JF - Tijdschrift voor Kindergeneeskunde

IS - 2

ER -

Haaruitval als kenmerkend verschijnsel voor biotinidasedeficiëntie

Abstract

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