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References OMIM Gene GeneReviews HGMD HGNC
last update : 24/08/2006
Symbol NKH2
Location 3p21.2
Name hyperglycinemia 2, non ketotic
Corresponding gene AMT
Main clinical features
  • typical and atypical (T protein deficiency) . presenting in most patients in the neonatal period with lethargy, hypotonia, myoclonic jerks, apnea, leading to early death
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name amino-methyltransferase,T protein (AMT), in up to 15% of NKH patients