Biotinidase deficiency: a survey of 10 cases. Issue 10 (October 1988)

• Record Type: Journal Article
• Authors: Wastell, H J; Bartlett, K; Dale, G; Shein, A
• Is Part Of: Archives of disease in childhood. Volume 63:Issue 10(1988)
• Page Start: 1244
• Page End: 1249
• Publication Date: 1988-10
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.63.10.1244
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Ten patients with biotinidase deficiency were studied. Clinical findings at presentation varied with dermatological signs (dermatitis and alopecia), neurological abnormalities (fits, hypotonia, and ataxia), and recurrent infections being the most common features, although none of these occurred in every case. Biochemically the disease is characterised by metabolic acidosis and organic aciduria. Treatment with biotin results in pronounced, rapid, clinical and biochemical improvement, but some patients have residual neurological damage comprising neurosensory hearing loss, visual pathway defects, ataxia, and mental retardation. The cause of this permanent damage remains obscure and it is not clear if the early introduction of treatment will prevent it.