Biotinidase deficiency.

Dahiphale, Ramdas; Jain, Shreepal; Agrawal, Mukesh

Dahiphale, Ramdas; Jain, Shreepal; Agrawal, Mukesh.

Indian Pediatr ; 2008 Sep; 45(9): 777-9

Article in English | IMSEAR | ID: sea-12427

ABSTRACT

ABSTRACT

A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.

Subject(s)

Acidosis/etiology; Alopecia/etiology; Biotin/therapeutic use; Biotinidase Deficiency/complications; Dermatitis, Seborrheic/etiology; Epilepsy/etiology; Humans; Infant; Male

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Acidosis / Biotin / Humans / Male / Dermatitis, Seborrheic / Biotinidase Deficiency / Epilepsy / Alopecia / Infant Language: English Journal: Indian Pediatr Year: 2008 Type: Article

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