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单词 Nonketotic hyperglycinemia
释义

Nonketotic hyperglycinemia

英语百科

Glycine encephalopathy

(重定向自Nonketotic hyperglycinemia)
Glycine Encephalopathy (Nonketotic Hyperglycinemia) has an autosomal recessive pattern of inheritance.

Glycine encephalopathy (also known as non-ketotic hyperglycinemia or NKH) is a rare autosomal recessive disorder of glycine metabolism. After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine catabolism. There are several forms of the disease, with varying severity of symptoms and time of onset. The symptoms are exclusively neurological in nature, and clinically this disorder is characterized by abnormally high levels of the amino acid glycine in bodily fluids and tissues, especially the cerebral spinal fluid.

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