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Citrullinemia type I (CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in argininosuccinate synthetase, an enzyme involved in excreting excess nitrogen from the body. [1] There are mild and severe forms of the disease, which is one of the urea cycle disorders.
Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. [1] Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea ...
In addition to identifying a core list of disorders that infants in the United States should be screened for, the ACMG also established a framework for nominating future conditions, and the structure under which those conditions should be considered. Severe combined immune deficiency (SCID) - added in 2009 [3]
An accumulation of ammonia during the first few days of life leads to poor feeding, vomiting, seizures, and the other signs and symptoms of type I citrullinemia. Treatment for this defect includes a low-protein diet and dietary supplementation with arginine and phenylacetate. Arginine allows the urea cycle to complete itself, creating the ...
On July 13, the FDA did approve the progestin-only Opill brand for over-the-counter use, which is a step in the right direction. The post Free the Meds: 5 Drugs You Should Be Able To Buy Over the ...
Some drugs may be legally classified as over-the-counter (i.e. no prescription is required), but may only be dispensed by a pharmacist after an assessment of the patient's needs or the provision of patient education. Regulations detailing the establishments where drugs may be sold, who is authorized to dispense them, and whether a prescription ...
Long-term effects of antiviral medications have not been evaluated for their effects after growth and development of the child occurs. Neutropenia can be a complication of acyclovir treatment of neonatal HSV infection, but is usually transient. [41] Treatment with immunoglobulin therapy has not been proven to be effective and is not recommended ...
This is a list of investigational autism and pervasive developmental disorder drugs, or drugs that are currently under development for clinical use in the treatment of autistic spectrum disorders and/or other pervasive developmental disorders but are not yet approved.