About The Medical Condition Partial Argininosuccinic Acid Synthetase Deficiency Disease
Find the definition of the medical term Partial Argininosuccinic Acid Synthetase Deficiency Disease. Partial Argininosuccinic Acid Synthetase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Partial Argininosuccinic Acid Synthetase Deficiency Disease
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What's The Definition Of The Medical Condition Partial Argininosuccinic Acid Synthetase Deficiency Disease?
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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