/deficiency. Used with endogenous and exogenous substances which are absent or in diminished amount relative to the normal requirement of an organism or a biologic system. . 0.66
Citrullinemia. Argininosuccinic Acid Synthase Deficiency Disease . Argininosuccinic Acid Synthetase Deficiency Disease . Argininosuccinic Acid Synthetase Deficiency Disease, Partial . Argininosuccinic Acid Synthetase Deficiency, Complete . Citrullinemia, Classical . Citrullinemia, Late-Onset . Citrullinemia, Neonatal . Citrullinemia, Type I . Citrullinuria . Complete Argininosuccinic Acid Synthetase Deficiency Disease . Deficiency, Argininosuccinic Acid Synthetase, Complete . Deficiency, Argininosuccinic Acid Synthetase, Partial . Partial Argininosuccinic Acid Synthetase Deficiency Disease . ASS Deficiencies . Argininosuccinate Synthetase Deficiencies . Citrullinemia, Late Onset . Citrullinemias . Citrullinemias, Classic . Citrullinemias, Classical . Citrullinemias, Late-Onset . Citrullinemias, Neonatal . Citrullinurias . Classic Citrullinemia . Classic Citrullinemias . Classical Citrullinemia . Classical Citrullinemias . Deficiencies, ASS . Deficiencies, Argininosuccinate Synthetase . Deficiency, ASS . Deficiency, Argininosuccinate Synthetase . Late-Onset Citrullinemia . Late-Onset Citrullinemias . Neonatal Citrullinemia . Neonatal Citrullinemias . Type 1, Citrullinemia . Argininosuccinate Synthase Deficiency Disease . Argininosuccinate Synthetase Deficiency . Argininosuccinic Acid Synthetase Deficiency . ASS Deficiency . Citrullinemia 1 . Citrullinemia Type 1 . Citrullinemia, Classic . Deficiency Disease, Argininosuccinate Synthase . Deficiency Disease, Argininosuccinic Acid Synthase . 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) . 0.66
Protein Deficiency. Deficiency, Protein . Deficiencies, Protein . Protein Deficiencies . Protein Malnutrition . A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406) . 0.63
