Ammara Ayub, Ayesha Hafeez, Seemi Salman, Aamir Ijaz, Munir Akmal Lodhi, Asif Ali.
Late onset non-ketotic hyperglycinemia - a rare presentation in children.
Pak J Pathol Jan ;27(3):136-9.

Nonketotic hyperglycinemia (NKH) is an inherited metabolic disorder characterized by accumulation of large amounts of amino acid glycine in blood, urine and cerebrospinal fluid due to defect in Glycine cleavage system (GCS), leading to seizures, muscular hypotonia, lethargy and coma. The diagnosis of NKH is based on finding of either an increased absolute value of glycine in the cerebrospinal fluid (CSF) or an increased CSF to plasma glycine ratio (control values <0.02). Among its various forms, the late onset variant is rarer in children. We are reporting a rare case of a child who presented with seizures on the 8th year of life and later investigations revealed encephalopathy due to Nonketotic hyperglycinemia (Late onset/ atypical variant).

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