non ketotic

What is Non-Ketotic Hyperglycinemia?

Non-Ketotic Hyperglycinemia (NKH) is a rare, inherited metabolic disorder characterized by an inability to properly break down the amino acid glycine. This condition is typically diagnosed in infancy and can lead to severe neurological complications. The disorder is caused by mutations in the genes responsible for the glycine cleavage system, resulting in elevated levels of glycine in the blood, urine, and cerebrospinal fluid.

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