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Hyperglycinemia (Nonketotic)

Hyperglycinemia (Nonketotic) Causes

Unusually high levels of glycine cause the disorder. The abnormal high level results from shortage of an enzyme that usually breaks down the body's glycine, resulting to glycine buildup in organs and tissues, especially the brain.

Hyperglycinemia (Nonketotic) Definition

Hyperglycinemia (nonketotic) is an innate metabolism error that's distinguished by the build up of huge quantities of amino acid glycine in urine, blood, and especially in the CSF or cerebrospinal fluid. This metabolic block happens in the transformation of glycine into tinier molecules. The disorder comes in several forms: classic form, infantile form, mild-episodic form, late-onset form, and atypical form.

Hyperglycinemia (Nonketotic) Diagnosis

Hyperglycinemia (nonketotic) may be diagnosed through diagnostic tests, physical examinations, and history.

Hyperglycinemia (Nonketotic) Symptoms and Signs

Symptoms for the disorder vary depending on the type and severity. Most affected individuals have the classic form or neonatal form, which presents itself in first several days from birth with signs of hypotonia, myoclonic jerks, lethargy, and progresses to aptea, and even death. Other symptoms may include seizures, mental retardation, chorea, vertical gaze palsy, and others.

Hyperglycinemia (Nonketotic) Treatment

Treatment is generally supportive and medical. Sodium benzoate may be administered to conjugate with glycine and reduce CSF and plasma. Arginine also helps facilitate glycine transminidation. Other treatments include anticonvulsant therapy and protein restriction in diet.

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