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CTLNChemical Terrorism Laboratory Network (est. 2002)
CTLNChronic T-Cell Lymphocytosis and Neutropenia
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When the results of the metabolic screenings that were sent with the pre-diagnosis of metabolic disease were evaluated, two patients with high argininosuccinic acid (ASA) levels in the plasma and urine were diagnosed with argininosuccinic aciduria, and four patients with no evidence of ASA and anhydrides in the blood and urine, but high serum citrulline levels both in the blood and urine were evaluated as citrullinemia Type I (Table II).
Transient fulminant liver failure as an initial presentation in citrullinemia type I.
4%) BPD-PKU 3 2 Citrullinemia 3 3 NKHG 3 2 Homocystunuria 3 3 Hyperornithinemia 2 2 OTC deficiency 2 2 Organic Acid Propionic acidemia 14 11 Disorders Isovaleric Acidemia 10 7 35/119 MMA 5 2 (29.
According to Vivet, its funds will be used to advance a diversified pipeline of gene therapy programmes targeting rare, inherited metabolic diseases, including Wilson Disease, progressive familial intrahepatic cholestasis type 2 (PFIC2), progressive familial intrahepatic cholestasis type 3 (PFIC3) as well as citrullinemia type I.
d) CIT, citrullinemia type I; ASA, argininosuccinic acidemia; TYR I, tyrosinemia type I; VLCAD, very long-chain acyl-CoA dehydrogenase deficiency; TFP, mitochondrial trifunctional protein deficiency; CUD, carnitine uptake defect; IVA, isovaleric acidemia; HMG, 3-hydroxy-3-methylglutaricaciduria; MCD, multiple carboxylase deficiency (also known as holocar-boxylase synthetase deficiency); MUT, methylmalonicacidemia by mutase deficiency; 3MCC, 3-methylcrotonyl-CoAcarboxylasedeficiency; CbIA,B, methylmalonicacidemia; PROP, propionicacidemia; BKT, [beta]-ketothiolase deficiency; Hb S/[beta]Th, Hb S/[beta]-thalassemia; ND, not discussed; NA, not available.
TMS tests: Phenylketonuria, Homocystinura, Maple Syrup Urine Disease, Arginino Succinic Aciduria, Citrullinemia, Propionic Acidemia, Methyl Malonic Acidemia, Isovaleric Acidemia, Beta Ketothiolase deficiency, Glutaric Aciduria types 1 & 2, Medium Chain Acyl-CoA Dehydrogenase deficiency, Very Long Chain Acyl CoA Dehydrogenase deficiency, HMG-CoA Lyase deficiency.
These include phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria (HCY), argininosuccinic acidemia (ASA), and citrullinemia (CIT).
Samples with a secondary cause of underglycosylation were from 1 patient with severe liver failure of unknown etiology, 1 patient with citrullinemia type I with liver failure, 1 patient with hemophagocytic lymphohistiocytosis, and 1 patient with HUS due to Streptococcus pneumoniae infection who was positive for plasma sialidase (specific activity, 41 100 pmol x [h.
These values may be observed in infants with classic citrullinemia, which would most likely be detectable after prolonged storage without correction for storage time.