title: Type II hyperprolinaemia in a pedigree of Irish travellers (nomads).
abstract: We describe a study of 312 subjects in 71 families near related to a proband with type II hyperprolinaemia. The subjects were Irish travellers (nomads) among whom consanguineous marriage and high fertility are common. Thirteen additional cases of type II hyperprolinaemia were discovered; all were offspring of consanguineous unions. A further 50 subjects were found to have mild hyperprolinaemia. We found a strong association between type II hyperprolinaemia and seizures during childhood but no significant association with mental handicap. Most adults with type II hyperprolinaemia enjoyed normal health and there was no evidence that maternal hyperprolinaemia compromised fetal development. The documented association between type II hyperprolinaemia and seizures may be related to the neuromodulatory or reducing-oxidising effects of proline and pyrroline-5-carboxylate, respectively, that has been shown in vitro. Alternatively, another genetic defect closely linked to the type II hyperprolinaemia allele could be the explanation.
authors.affiliation: Midland Health Board, Mullingar, Ireland.
authors.forename: M P
authors.initials: MP
authors.lastname: Flynn
authors.forename: M C
authors.initials: MC
authors.lastname: Martin
authors.forename: P T
authors.initials: PT
authors.lastname: Moore
authors.forename: J A
authors.initials: JA
authors.lastname: Stafford
authors.forename: G A
authors.initials: GA
authors.lastname: Fleming
authors.forename: J M
authors.initials: JM
authors.lastname: Phang
mesh_terms: D050842:1-Pyrroline-5-Carboxylate Dehydrogenase; D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007494:Ireland; D008297:Male; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000097:blood; D010375:Pedigree; D011392:Proline / Q000097:blood / Q000378:metabolism*; D012640:Seizures / Q000235:genetics; D014171:Transients and Migrants
chemical_list: D011392:Proline; D050842:1-Pyrroline-5-Carboxylate Dehydrogenase; C494240:ALDH4A1 protein, human; D000587:Oxidoreductases Acting on CH-NH Group Donors