5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.
Mayatepek
E
E
Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany.
Hoffmann
G F
GF
Larsson
A
A
Becker
K
K
Bremer
H J
HJ
D000740:Anemia / Q000201:enzymology / Q000235:genetics; D002658:Developmental Disabilities / Q000201:enzymology / Q000235:genetics*; D005183:Failure to Thrive / Q000201:enzymology / Q000235:genetics; D005260:Female; D005978:Glutathione / Q000097:blood; D005981:Glutathione Synthase / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000201:enzymology / Q000235:genetics; D011752:Pyroglutamate Hydrolase / Q000172:deficiency*
D011752:Pyroglutamate Hydrolase; D005981:Glutathione Synthase; D005978:Glutathione