Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults.
Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.
Dinopoulos
A
A
Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA. argidino@yahoo.com
Kure
S
S
Chuck
G
G
Sato
K
K
Gilbert
D L
DL
Matsubara
Y
Y
Degrauw
T
T
D000328:Adult; D000374:Aggression / Q000502:physiology; D000818:Animals; D001921:Brain / Q000201:enzymology* / Q000503:physiopathology*; D001923:Brain Chemistry / Q000235:genetics; D019556:COS Cells; D002522:Chlorocebus aethiops; D004252:DNA Mutational Analysis; D015971:Gene Expression Regulation, Enzymologic / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D050841:Glycine Dehydrogenase (Decarboxylating) / Q000235:genetics*; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000201:enzymology / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010554:Personality Disorders / Q000201:enzymology / Q000235:genetics; D010641:Phenotype
D050841:Glycine Dehydrogenase (Decarboxylating)