Biotinidase deficiency--a treatable entity.

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dc.contributor.authorGulati, Sen_US
dc.contributor.authorPassi, G Ren_US
dc.contributor.authorKumar, Aen_US
dc.contributor.authorKabra, Men_US
dc.contributor.authorKalra, Ven_US
dc.contributor.authorVerma, I Cen_US
dc.date.accessioned2000-06-10en_US
dc.date.accessioned2009-05-30T11:18:51Z
dc.date.available2000-06-10en_US
dc.date.available2009-05-30T11:18:51Z
dc.date.issued2000-06-10en_US
dc.description.abstractBiotinidase deficiency is a well recognised treatable cause of a wide spectrum of progressive neurological symptoms. Recent reports have stressed the need to screen children with early onset of seizures, encephalopathy, neurodevelopmental delay, skin rash and alopecia. Enzyme estimation remains the conclusive test. We present a patient with biotinidase deficiency suspected on the above clinical grounds and diagnosed on the basis of metabolic acidosis, raised blood lactate, ketonuria and positive dinitrophenylhydrazine (DNPH) test and confirmed on urinary organic acid profile. Supplementation with biotin resulted in marked clinical improvement and normalisation of metabolic parameters. Thus the clinician should be alert to simple clinical pointers which aid in early diagnosis of these disorders.en_US
dc.description.affiliationDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi.en_US
dc.identifier.citationGulati S, Passi GR, Kumar A, Kabra M, Kalra V, Verma IC. Biotinidase deficiency--a treatable entity. Indian Journal of Pediatrics. 2000 Jun; 67(6): 464-6en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/79547
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshAmidohydrolases --deficiencyen_US
dc.subject.meshBiotin --therapeutic useen_US
dc.subject.meshBiotinidaseen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.subject.meshMetabolism, Inborn Errors --complicationsen_US
dc.subject.meshNervous System Diseases --etiologyen_US
dc.subject.meshPrognosisen_US
dc.titleBiotinidase deficiency--a treatable entity.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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