Nonketotic hyperglycinemia in a patient with the 9p- syndrome.
We describe a newborn infant with 9p- syndrome and nonketotic hyperglycinemia. This unusual occurrence may not have been coincidental and suggests that there may be a gene for nonketotic hyperglycinemia located on the short arm of chromosome 9.
Department of Pediatrics, Bowman Gray School of Medicine, Winston-Salem, North Carolina 27103.
B K
BK
Burton
M J
MJ
Pettenati
S M
SM
Block
J
J
Bensen
E S
ES
Roach
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D005808:Genes, Recessive; D005817:Genetic Counseling; D005998:Glycine / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D013577:Syndrome
D005998:Glycine