Article
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.
Pediatric neurology - 1 Nov 1995
Uziel G, Garavaglia B, Ciceri E, Moroni I, Rimoldi M
Abstract excerpt
The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical and psychomotor development until the age of 3 years, who then developed progressive intention...
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