The important role of biotin in human physiology has been highlighted by the recognition of two newly discovered human inborn errors of the metabolism of biotin. The molecular defect in the neonatal-onset disease is in the enzyme holocarboxylase synthetase. The defect in the later infantile-onset disease is in the enzyme biotinidase.
Both disorders present with impressive clinical ma…
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Inborn errors of biotin metabolism.
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Diagnosis and treatment of biotinidase deficiency-clinical study of six patients…
OBJECTIVE: To investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency and to determine the efficacy of current therapy with respect to outcome.
METHODS: Six patients aged from 3 months to 14 years with biotinidase deficiency were confirmed by urinary organic acid analysis with gas chromatography/mass spectrometry (GC/MS) and biotinidase assay … |
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Biotinidase deficiency--a treatable entity.
Biotinidase deficiency is a well recognised treatable cause of a wide spectrum of progressive neurological symptoms.
Recent reports have stressed the need to screen children with early onset of seizures, encephalopathy, neurodevelopmental delay, skin rash and alopecia. Enzyme estimation remains the conclusive test. We present a patient with biotinidase deficiency suspec… |
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Biotinidase deficiency: a survey of 10 cases
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 acido… |
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