Article
Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses.
Prenatal diagnosis - 1 Feb 1998
Pomponio R J, Hymes J, Pandya A, Landa B, Melone P, Javaheri R, Mardach R, Morton S W, Meyers G A, Reynolds T, Buck G, Nance W E, Wolf B
Abstract excerpt
Biotinidase deficiency is characterized by neurological and cutaneous abnormalities that can be prevented or ameliorated by oral biotin therapy. A child with biotinidase deficiency went undiagnosed for a long period and has irreversible neurological deficits despite biotin treatment. This child is homozygous for the most common mutation (G98:d7i3) found in symptomatic children with the disorder. The parents...
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