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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Citrullinemia | Legal notice |
Other terms
Citrullinemias,Argininosuccinate Synthetase Deficiency,Argininosuccinate Synthetase Deficiencies,Deficiencies, Argininosuccinate Synthetase,Deficiency, Argininosuccinate Synthetase,Argininosuccinic Acid Synthase Deficiency Disease,Argininosuccinic Acid Synthetase Deficiency,Argininosuccinic Acid Synthetase Deficiency Disease,ASS Deficiency,ASS Deficiencies,Deficiencies, ASS,Deficiency, ASS,Citrullinemia Type 1,Type 1, Citrullinemia,Citrullinemia, Classic,Citrullinemias, Classic,Classic Citrullinemia,Classic Citrullinemias,Citrullinuria,Citrullinurias,Deficiency Disease, Argininosuccinate Synthase,Deficiency Disease, Argininosuccinic Acid Synthase,Argininosuccinate Synthase Deficiency Disease,Citrullinemia 1,Argininosuccinic Acid Synthetase Deficiency Disease, Partial,Deficiency, Argininosuccinic Acid Synthetase, Partial,Partial Argininosuccinic Acid Synthetase Deficiency Disease,Citrullinemia, Late-Onset,Citrullinemia, Late Onset,Citrullinemias, Late-Onset,Late-Onset Citrullinemia,Late-Onset Citrullinemias,Argininosuccinic Acid Synthetase Deficiency, Complete,Deficiency, Argininosuccinic Acid Synthetase, Complete,Complete Argininosuccinic Acid Synthetase Deficiency Disease,Citrullinemia, Classical,Citrullinemias, Classical,Classical Citrullinemia,Classical Citrullinemias,Citrullinemia, Neonatal,Citrullinemias, Neonatal,Neonatal Citrullinemia,Neonatal Citrullinemias
Description
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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