Biotinidase deficiency: An atypical presentation

Jagadeesh Sujatha; Suresh Beena; Seshadri Suresh; Suzuki Yoichi

Biotinidase deficiency: An atypical presentation

Jagadeesh Sujatha, Suresh Beena, Seshadri Suresh, Suzuki Yoichi

Tohoku Medical Megabank Organization (ToMMo)

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

3 Citations (Scopus)

Abstract

Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.

Original language	English
Pages (from-to)	29-30
Number of pages	2
Journal	National Medical Journal of India
Volume	26
Issue number	1
Publication status	Published - 2013 Jan

ASJC Scopus subject areas

Medicine(all)

Cite this

@article{e9448075f7e54c639a763bd7a9803456,

title = "Biotinidase deficiency: An atypical presentation",

abstract = "Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.",

author = "Jagadeesh Sujatha and Suresh Beena and Seshadri Suresh and Suzuki Yoichi",

year = "2013",

month = jan,

language = "English",

volume = "26",

pages = "29--30",

journal = "National Medical Journal of India",

issn = "0970-258X",

publisher = "All India Institute of Medical Sciences",

number = "1",

}

TY - JOUR

T1 - Biotinidase deficiency

T2 - An atypical presentation

AU - Sujatha, Jagadeesh

AU - Beena, Suresh

AU - Suresh, Seshadri

AU - Yoichi, Suzuki

PY - 2013/1

Y1 - 2013/1

N2 - Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.

AB - Biotinidase deficiency is a rare metabolic disorder which can cause dermatological manifestations and lead to severe neurological sequelae if untreated. Holocarboxylase synthetase deficiency also has similar manifestations and needs to be differentiated. We present a neonate who had atypical early onset symptoms and was diagnosed to have biotinidase deficiency.

UR - http://www.scopus.com/inward/record.url?scp=84879291772&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84879291772&partnerID=8YFLogxK

M3 - Article

C2 - 24066991

AN - SCOPUS:84879291772

VL - 26

SP - 29

EP - 30

JO - National Medical Journal of India

JF - National Medical Journal of India

SN - 0970-258X

IS - 1

ER -

Biotinidase deficiency: An atypical presentation

Abstract

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this