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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 ...
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.
Pellagra is a disease caused by a lack of the vitamin niacin (vitamin B 3). [2] Symptoms include inflamed skin, diarrhea, dementia, and sores in the mouth. [1] Areas of the skin exposed to friction and radiation are typically affected first. [1]
Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline.
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 ...
Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, [1] is a rare autosomal recessive [2] urea cycle disorder affecting the enzyme ornithine translocase, which causes ammonia to accumulate in the blood, a condition called hyperammonemia.
Why doctors hesitate to prescribe hormone therapy. One of the barriers to women getting treatment for menopause symptoms is the reluctance some doctors have to prescribe hormone replacement ...
Carbamoyl phosphate synthetase I deficiency has an autosomal recessive pattern of inheritance.. CPS I deficiency is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.