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