Table 1C Reported cases of HPI with p.T466M variant.

From: Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH

Patient No. 1 2 3 4 5 6 7 8 9
Sex (age at diagnosis) M (9) M (6.5) M (7) F (13) M (3) M (3) M (9) M (13) M
 Autism +− + + + N.A
 Seizure Febrile + + + + N.A
 Psychomotor delay + + + N.A
 Hypotonia + N.A
 Unbalanced diet + N.A N.A N.A N.A N.A N.A N.A N.A
 Language disorder Few words Short sentence + N.A
 Intellectual disability +− + + + + + +
 Aggressiveness + N.A
 Plama proline level (μmol/L) 530–625 930–1,000 595–715 637–1,667 1,200 414–804 679 605 N.A
 MRI Normal CC enlargement Mild CC enlargement Normal Normal Abnormal Normal Normal N.A
 22q11 microdeletion + N.A N.A N.A N.A N.A  + 
 Variants T466M/T466M + R521Q/R521Q T466M + W185R T466M/T466M + R453C T466M/R453C +R431H T466M/T466M + R453C/R453C T466M + R453C/Q19P T466M + R453C+W185R+Q19P+P30S/R431H T466M + Q19P+W185R/R431H T466M
 Reference This study Afenjar et al. (2007)   Guilmatre et al. (2010)      Chérot et al. (2018)
  1. CC: corpus callosum, N.A: not available