Nonketotic Hyperglycinemia synonyms

Nonketotic Hyperglycinemia Synonyms

Nonketotic Hyperglycinemia (NKH) is a rare genetic disorder that affects the breakdown of the amino acid glycine in the body. It is also known by several other names, including:

• Glycine Encephalopathy: This term refers to the neurological symptoms associated with the disorder. Encephalopathy indicates a disease or disorder affecting the brain.


• Hyperglycinemia, Nonketotic Type: This name highlights the elevated levels of glycine in the blood, which is a characteristic feature of the condition. Nonketotic refers to the absence of ketones in the urine.


• GLDC Deficiency: GLDC is the gene responsible for producing the enzyme that breaks down glycine. Deficiency in this gene leads to the accumulation of glycine in the body.


• Hyperglycinuria: This term refers to the increased excretion of glycine in the urine, which is a common finding in individuals with NKH.


• Nonketotic Hyperglycinemia without Ketoacidosis: This name emphasizes the absence of ketoacidosis, a condition characterized by high levels of ketones in the blood.

NKH is a severe disorder that primarily affects the central nervous system, leading to developmental delays, seizures, and intellectual disabilities. It is typically diagnosed in infancy or early childhood. The various synonyms for Nonketotic Hyperglycinemia reflect different aspects of the condition, such as its biochemical features, genetic cause, and clinical manifestations.