Identification of the largest homozygous glycine decarboxylase gene deletion in a Turkish infant

Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error of metabolism caused by a defect in the glycine cleavage complex.1 Progressive lethargy, hypotonia, feeding difficulties, hiccups, and recurrent apnea are usually observed during the first few days of life. Subsequent severe neurologic dysfunction may occur, including intractable seizures, motor and cognitive impairments.2 NKH is characterized biochemically by increased cerebrospinal fluid (CSF) and plasma glycine levels and an increased CSF-to-plasma glycine ratio.

Source: Pediatrics and Neonatology - February 1, 2018 Category: Perinatology & Neonatology Authors: Semra G ürsoy, Esra Ataman, Özlem Giray Bozkaya, Engin Köse, Müge Ayanoğlu, Ayşe İpek Polat, Nur Arslan, Semra Hız Kurul, Derya Erçal Tags: Short Communication Source Type: research