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.
journal_name
Arch Dis Childjournal_title
Archives of disease in childhoodauthors
Wastell HJ,Bartlett K,Dale G,Shein Adoi
10.1136/adc.63.10.1244subject
Has Abstractpub_date
1988-10-01 00:00:00pages
1244-9issue
10eissn
0003-9888issn
1468-2044journal_volume
63pub_type
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journal_title:Archives of disease in childhood
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doi:10.1136/adc.57.11.823
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journal_title:Archives of disease in childhood
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