• Patients with citrullinemia, caused by a deficiency of AS , or argininosuccinic aciduria, caused by a deficiency of AL , will manifest marked increases of blood citrulline and argininosuccinate, respectively. (nih.gov)
  • Primary urea cycle disorders (UCDs) include carbamoyl phosphate synthase (CPS) deficiency, ornithine transcarbamylase (OTC) deficiency, argininosuccinate synthetase deficiency (citrullinemia), argininosuccinate lyase deficiency (argininosuccinic aciduria), arginase deficiency (argininemia), and N -acetylglutamate synthetase (NAGS) deficiency. (msdmanuals.com)
  • The presence of hyperammonemia, hyperglutaminemia, hyperalaninemia and orotic aciduria in a critically ill infant affords strong presumptive evidence for OTC deficiency. (nih.gov)
  • On 10 June 2010, orphan designation (EU/3/10/734) was granted by the European Commission to Hyperion Therapeutics Limited, United Kingdom, for glyceryl tri-(4-phenylbutyrate) for the treatment of ornithine carbamoyltransferase deficiency. (europa.eu)
  • At the time of designation, phenylbutyrate was authorised in the EU for the treatment of some urea cycle disorders, including ornithine carbamoyltransferase deficiency. (europa.eu)
  • Infants with argininosuccinic lyase deficiency may present with hepatomegaly. (medscape.com)
  • Erez A, Nagamani SC, Lee B. Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond. (medscape.com)
  • Symptoms of alpha-1 antitrypsin deficiency include shortness of breath, recurring respiratory infections, or obstructive asthma that does not respond to treatment. (the-medical-dictionary.com)
  • With early diagnosis and ongoing treatment of GAMT deficiency , most affected children will have normal growth and development. (medicalhomeportal.org)
  • Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria , is a rare autosomal recessive disorder [1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid , or GABA . (wikidoc.org)
  • Indicated as adjunctive treatment of acute hyperammonemia associated with encephalopathy caused by urea cycle enzyme deficiencies. (medscape.com)
  • It is not indicated for treatment of hyperammonemia. (medscape.com)
  • Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver. (wikipedia.org)
  • With early diagnosis, treatments to reduce GAA levels can allow for normal growth and development before irreversible neurological damage occurs. (medicalhomeportal.org)
  • Without treatment, symptoms may begin between birth and 5 years of age and include global developmental delays, hypotonia, intellectual disability, impairment of expressive speech, autistic features, and varying neurological manifestations, including epilepsy and movement disorders. (medicalhomeportal.org)
  • Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. (wikipedia.org)
  • Monitoring the treatment of urea cycle disorders using phenylbutyrate metabolite analyses: Still many lessons to learn. (viictr.org)
  • Because the disorders can be so serious, early diagnosis and treatment are critical. (medlineplus.gov)
  • Without treatment, their presentation ranges from mild disorders to acute life-threatening diseases. (nsu.govt.nz)
  • Without treatment , chronic problems ensue, including liver disease leading to cirrhosis and hepatocellular carcinoma, renal tubular disease (Fanconi syndrome), rickets, failure to thrive, and coagulation disorders. (medicalhomeportal.org)
  • Examination occasionally reveals a peculiar finding, such as odor of "sweaty feet" in isovaleric acidemia or abnormally fragile hair in argininosuccinic aciduria. (medscape.com)
  • With early diagnosis and ongoing treatment of isovaleric acidemia, most affected children will have normal development. (medicalhomeportal.org)
  • Complications from argininosuccinic aciduria may include developmental delay and mental retardation. (wikipedia.org)
  • Immediate treatment and lifelong management (following a strict diet and using appropriate supplements) may prevent many of these complications. (wikipedia.org)
  • Some babies may also need additional treatments if there are complications. (medlineplus.gov)
  • Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair, developmental delay, and tremors. (wikipedia.org)
  • An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma. (wikipedia.org)
  • Description - Patient overview (no PHI or specific patient information), screening, diagnosis and treatment approach, and overview of clinical signs/symptoms. (egeneticnutritionacademy.org)
  • Current MSUD treatment is limited to severe and life-long BCAA dietary restriction associated with an oral BCAA-free amino acids mixture. (nature.com)
  • Treatment consists of a diet low in the protein-derived amino acids tyrosine and phenylalanine, and nitisinone (NTBC), a medication that inhibits upstream tyrosine degradation, thereby preventing the formation of succinylacetone. (medicalhomeportal.org)
  • Treatment for MSUD represents an unmet need because the current treatment with life-long low-protein diet is challenging to maintain, and despite treatment the risk of acute decompensations and neuropsychiatric symptoms remains. (nature.com)
  • NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances. (nih.gov)
  • Some have treatments to control symptoms. (medlineplus.gov)
  • Most treatments for arachnoiditis are focused on pain relief and the improvement of symptoms that impair daily function. (the-medical-dictionary.com)
  • treatment of A1AD-related liver damage focuses on alleviating the symptoms of the disease. (the-medical-dictionary.com)
  • Provide emergency treatment and referral for symptoms of poor feeding or vomiting. (medicalhomeportal.org)
  • Treatments may include special diets, medicines, and supplements. (medlineplus.gov)
  • Orphan designation of glyceryl tri-(4-phenylbutyrate) had been granted in the United States of America for the maintenance treatment of patients with deficiencies in enzymes of the urea cycle. (europa.eu)
  • The original five UCDC site PIs had established relationships from serving on the NUCDF scientific advisory committee and through working on an early UCD treatment protocol for the use of phenylbutyrate. (rarediseasesnetwork.org)
  • adjunctive administration of brivaracetam, Treatment of paediatric patients with partial. (pdfkul.com)
  • FTTDCD: In addition to dietary treatment, administration of sodium pyruvate may improve growth. (nih.gov)
  • Without treatment , children with the chronic, intermittent form may suffer neurologic damage, though most children are developmentally normal. (medicalhomeportal.org)
  • The Longitudinal Study (LS, 5101) is essential to the overall goals of the UCDC and is the basis of its research mission to address questions of pathophysiology and morbidity/mortality, as well as other outcomes of UCD including growth and development, metabolic status, nutritional status, cognitive function, treatment effects, pregnancy outcomes of affected mothers and their children, late effects and co-morbidities, and quality of life/mental health status. (rarediseasesnetwork.org)
  • Delayed development and mental retardation are among the long-term consequences in survivors who do not receive proper treatment. (medscape.com)
  • Timely diagnosis leads to early treatment and. (msdmanuals.com)
  • Early treatment is also associated with a significantly reduced risk of hepatocellular carcinoma. (medicalhomeportal.org)
  • See Treatment and Medication for more detail. (medscape.com)
  • Untreated patients may develop cerebral edema and die, and some patients die despite treatment. (medscape.com)
  • Such treatment is difficult to maintain in the long term and is largely incompatible with a normal quality of life. (nature.com)