About The Medical Condition Citrullinemia, Neonatal
Find the definition of the medical term Citrullinemia, Neonatal. Citrullinemia, Neonatal defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Citrullinemia, Neonatal
| Citrullinemia, Neonatal Medical Condition |
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What's The Definition Of The Medical Condition Citrullinemia, Neonatal?
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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