title: Biotinidase deficiency with hypertonia as unusual feature.
abstract: We report 3 cases of biotinidase deficiency presenting in early infancy with neurological and cutaneous manifestations. All of them had hypertonia (spasticity). Response to oral biotin was excellent. One of the cases showed 7D3I biotidase deficient mutation.
authors.affiliation: Rathi Children and Maternity Hospital, Civil Lines, Akola 444 001, M.S., India. drmansh@hotmail.com
authors.forename: Narendra
authors.initials: N
authors.lastname: Rathi
authors.forename: Manisha
authors.initials: M
authors.lastname: Rathi
mesh_terms: D001710:Biotin / Q000008:administration & dosage; D028921:Biotinidase Deficiency / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D009122:Muscle Hypertonia / Q000209:etiology*; D014803:Vitamin B Complex / Q000008:administration & dosage
chemical_list: D014803:Vitamin B Complex; D001710:Biotin