Ontology highlight
ABSTRACT:
SUBMITTER: Kose E
PROVIDER: S-EPMC5726819 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Kose Engin E Yis Uluc U Hiz Semra S Arslan Nur N
Neurosciences (Riyadh, Saudi Arabia) 20170401 2
Non-ketotic hyperglycinemia (NKH) is a rare inborn error of metabolism and is caused by a glycine cleavage system deficiency. Eighty-five percent of patients present with the neonatal type of NKH, the infants initially develop lethargy, seizures, and episodes of apnea, and most often death. Between 60-90% of cases are caused by mutations in the glycine decarboxylase (GLDC). We believed that more mutation reports especially for rare disease as NKH help to evaluate the genotype-phenotype relations ...[more]