Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.5.1.12 (biotinidase)
 392 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied. Primary defects of urea cycle enzymes were excluded as causes of the disorder. The analysis of urinary organic acids showed a moderate increase of lactate, methylcitrate, tiglyglycine and 3-hydroxisovalerate, indicating an abnormality of multiple carboxylases. Biotin supplementation reversed the urinary abnormalities. In fibroblasts grown with a low biotin medium propionylCoA and 3-methylcrotonylCoA carboxylase activities were reduced. Holocarboxylase synthetase activity was normal (Vmax and Km). Surprisingly the biotinidase in fibroblasts was not decreased. The data indicate that some patients with Rett syndrome might suffer from a biotin-dependent defect of unknown nature.
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PMID:Rett syndrome revisited: a patient with biotin dependency. 370 67

Two children with biotinidase deficiency presented with seizures at 2 months of age. The first child had a fluctuating course with continual developmental progress and cessation of seizures despite symptoms of chronic neurologic dysfunction until he was diagnosed at 17 months. The second child had a progressive course with uncontrolled seizures leading to an unresponsive state until she was diagnosed at 6 1/2 months. Neither child had dermatologic symptoms until shortly before the time of diagnosis. Both children improved markedly with biotin treatment. Serial CT-scan and MRI studies of the brain showed a distinct pattern of changes. Shortly after initial presentation, diffuse low attenuation of the white matter was seen followed by progressive marked cerebral atrophy, which was reversed following biotin treatment. Because this is a reversible condition, clinicians should screen for biotinidase deficiency in all children with symptoms of chronic neurologic dysfunction, especially when radiologic findings of low attenuation of the white matter are followed by cerebral atrophy.
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PMID:Reversal of brain atrophy with biotin treatment in biotinidase deficiency. 823 80