Citrullinemia Causes, Symptoms and Treatment and Related Disorders
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Citrullinemia Type 1
National Organization for Rare Disorders, Inc.
Synonyms ...
Citrullinemia
Citrullinemia is a urea cycle disorder which is an inherited metabolic disease, and stems from a deficiency of Argininosuccinic acid Synthetase.
Citrullinemia is an autosomal recessive genetic condition. The gene has been mapped to chromosome 9 and has a locus at band 9q34. The adult-onset type is caused by mutation at locus 7q21.
citrullinemia - caused by mutations in the ASS1 gene At least 50 mutations that cause type I citrullinemia have been identified in the ASS1 gene. Most of these mutations change single amino acids in the argininosuccinate synthetase 1 enzyme.
Citrin deficiency (citrullinemia II): Citrin deficiency is caused by a mutation of the SLC25A13 gene that may decrease the production of citrin. In the urea cycle, citrin is a transporter protein of aspartate.
Citrullinemia ... impaired vision
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Hawkinsinuria, Homocystinuria, Hypermethioninemia) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency/translocase deficiency, Citrullinemia, ...
Primary urea cycle disorders (UCDs) include carbamoyl phosphate synthase (CPS) deficiency, ornithine transcarbamylase (OTC) deficiency, argininosuccinate synthetase deficiency (citrullinemia), ...
Episiotomy, European Adder, Giardiavirus, Gum Tragacanth, H1 Agonist, Histamine, IGF Binding Protein 4, Immunolabeling Technics, Infection, Roseolovirus, Kallikrein, hK3, Leriches Syndrome, Mandrill, Monkey, Red, Neonatal Citrullinemias, Neoplasm, ...
of urea cycle disorders including. citrullinemia and argininosuccinic ... whether your baby is affected by a urea. cycle disorder by doing one or more of the ...
Full article ...
Citrucel Clear Mix - Medication
Citrucel Food Pack - Medication
Citrucel Lax - Medication
Citrucel SF - Medication
Citrullinemia Type 1
citrullinemia, classic
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Argininosuccinic aciduria
Arginase deficiency
Carbamyl phosphate synthetase (CPS) deficiency
Citrullinemia
N-acetyl glutamate synthetase deficiency (NAGS)
Ornithine transcarbamylase deficiency (OTC) ...
 See also: Deficiency, Symptom, Urea Cycle, Argininosuccinic aciduria, Hyperammonemia
  
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