Biotinidase deficiency - Diagnosis by enzyme assay and a follow-up study

N. Ananth, G. S.Praveen Kumar

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

A 3 month old male child was brought to the hospital with complaints of skin rashes, developmental delay, seizures, seborrheic dermatitis, alopecia and mild acidosis. The child was subjected to a simple metabolic screening protocol. The result of the screening and the clinical symptoms provided an index pointing towards biotinidase deficiency, a rare autosomal recessive, inherited metabolic disorder. The enzyme was then assayed by using n-biotinyl paminobenzoate as substrate and the diagnosis confirmed. A follow-up of the case indicated the efficacy of biotin supplementation in biotinidase deficiency.

Original languageEnglish
Pages (from-to)23-26
Number of pages4
JournalIndian Journal of Clinical Biochemistry
Volume18
Issue number2
DOIs
Publication statusPublished - 01-01-2003
Externally publishedYes

Fingerprint

Biotinidase
Biotinidase Deficiency
Enzyme Assays
Assays
Screening
Dermatitis
Seborrheic Dermatitis
Alopecia
Enzymes
Biotin
Acidosis
Exanthema
Skin
Seizures
Substrates

All Science Journal Classification (ASJC) codes

  • Clinical Biochemistry

Cite this

Ananth, N. ; Kumar, G. S.Praveen. / Biotinidase deficiency - Diagnosis by enzyme assay and a follow-up study. In: Indian Journal of Clinical Biochemistry. 2003 ; Vol. 18, No. 2. pp. 23-26.
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Biotinidase deficiency - Diagnosis by enzyme assay and a follow-up study. / Ananth, N.; Kumar, G. S.Praveen.

In: Indian Journal of Clinical Biochemistry, Vol. 18, No. 2, 01.01.2003, p. 23-26.

Research output: Contribution to journalArticle

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