Alicia L. Bright

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We describe an autosomal recessive condition characterized with cerebral vasculopathy and early onset of stroke in 14 individuals in Old Order Amish. The phenotype of the condition was highly heterogeneous, ranging from severe developmental disability to normal schooling. Cerebral vasculopathy was a major hallmark of the condition with a common theme of(More)
Ganglioside GM3 synthase deficiency is a rare autosomal recessive metabolic disorder characterized by infantile onset of severe irritability and epilepsy, failure to thrive, developmental stagnation, and cortical blindness. Because of the lack of easily recognizable dysmorphism and specific neurologic manifestations, identification of patients with this(More)
Homocysteine is an amino acid, which is metabolized either by the remethylation pathway to methionine or the trans-sulfuration pathway to cysteine. The former pathway is dependent on the proper functioning of the enzymes methionine synthetase and methylene tetrahydrofolate reductase as well as adequate blood levels of vitamin B12 and folic acid. The later(More)
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