The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.
Jacquet
H
H
INSERM EMI 9906-IFRMP, Faculty of Medicine, Rouen, France.
Berthelot
J
J
Bonnemains
C
C
Simard
G
G
Saugier-Veber
P
P
Raux
G
G
Campion
D
D
Bonneau
D
D
Frebourg
T
T
D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping / Q000379:methods; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003241:Consanguinity; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D011392:Proline / Q000097:blood* / Q000378:metabolism*; D011394:Proline Oxidase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism
D011392:Proline; D011394:Proline Oxidase