Biotinidase deficiency with hypertonia as unusual feature.
Indian Pediatr
;
2009 Jan; 46(1): 65-7
Article
in English
| IMSEAR
| ID: sea-10093
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Vitamin B Complex
/
Biotin
/
Humans
/
Male
/
Biotinidase Deficiency
/
Infant
/
Muscle Hypertonia
Language:
English
Journal:
Indian Pediatr
Year:
2009
Type:
Article
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