NEONATAL NON KETOTIC HYPERGLYCINEMIA - A CASE REPORTJournal: University Journal of Surgery and Surgical Specialities (Vol.5, No. 10)
Publication Date: 2019-12-02
Authors : GARLAPATI SWETHA;
Page : 112-113
Keywords : NON KETOTIC HYPERGLYCINEMIA; GLYCINE CLEAVAGE ENZYMES; TANDEM MASS SPECTROSCOPY;
Abstract : Non ketotic hyperglycinemia (NKH) is a metabolic disorder with autosomal recessive inheritance causing severe and lethal neurological symptoms in the neonatal period. It is the second most common disorder of amino acid metabolism following phenylketonuria. The metabolic abnormality of Nonketotic Hyperglycinemia is the deficiency of glycine cleavage enzyme complex which causes accumulation of glycine , an excitatory neurotransmitter acting through NMDA receptors leading to neurological abnormalities including seizures. Here is a case of a newborn which presented on second day of life with inability to feed and lethargy , eventually developed refractory seizures. With the relevant investigations and tandem mass spectroscopy, the child was found to have nonketotic hyperglycinemia.
Other Latest Articles
Last modified: 2019-12-03 16:06:14