Open AccessClinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India
Author(s) -
Ankur Singh,
Avinash Lomash,
SS Pandey,
Seema Kapoor
Publication year - 2015
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2015/12958.6941
Subject(s) - biotinidase deficiency , medicine , interquartile range , hypotonia , pediatrics , incidence (geometry) , ataxia , epilepsy , newborn screening , physics , optics , psychiatry
Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients.