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GENATLAS PHENOTYPE

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