Glutaryl CoA Dehydrogenase Deficiency

It is feasible that the major title of the record Glutaricaciduria I is not the name you got.
Glutaricaciduria I (GA-I) is an unusual genetic metabolic problem, dued to a shortage of the enzyme glutaryl-CoA dehydrogenase. Among a team of conditions called “natural acidemias,” it is identified by a bigger head (macrocephaly), reduced muscle mass tone (hypotonia), puking, as well as excess acid in the blood. Influenced people might likewise have spontaneous motions of the trunk and also arm or legs (dystonia or athetosis) as well as mental deficiency could additionally take place.

Considering that they offer with retinal and/or subdural hemorrhages, children with glutaricaciduria I are in some cases erroneously assumed by clinical experts to be mistreated children.

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