Biotinidase deficiency with hypertonia as unusual feature.
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.
Rathi
Narendra
N
Rathi Children and Maternity Hospital, Civil Lines, Akola 444 001, M.S., India. drmansh@hotmail.com
Rathi
Manisha
M
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
D014803:Vitamin B Complex; D001710:Biotin