About The Medical Condition Classical Citrullinemia

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Find the definition of the medical term Classical Citrullinemia. Classical Citrullinemia defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Classical Citrullinemia

Classical Citrullinemia Medical Condition Defined & Explained
Classical Citrullinemia Medical Condition

What's The Definition Of The Medical Condition Classical Citrullinemia?

A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)

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