title: Early intervention for late-onset ornithine transcarbamylase deficiency.
abstract: We report the case of a family with late-onset ornithine transcarbamylase deficiency (OTCD). Several family members had died from OTCD, and the c.221G>A, p.Lys221Lys mutation was detected at the 3' end of exon 6 of OTC in the X-chromosome of some members. We provided genetic counseling on pregnancy, delivery, and neonate management to a 4th-generation female carrier and decided on metabolic management of her child from birth. Two male patients were diagnosed with late-onset OTCD on the basis of blood amino acid and genetic analysis, and they received arginine supplementation from the asymptomatic, early neonatal period. These children grew and developed normally, without decompensation. Patients with late-onset OTCD can and should be diagnosed and treated in the early neonatal period, especially those from families already diagnosed with late-onset OTCD, and family members must be provided with genetic counseling.
authors.affiliation: Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Fujisawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mitsubuchi
authors.forename: Shirou
authors.initials: S
authors.lastname: Matsumoto
authors.forename: Masanori
authors.initials: M
authors.lastname: Iwai
authors.forename: Kimitoshi
authors.initials: K
authors.lastname: Nakamura
authors.forename: Ryuji
authors.initials: R
authors.lastname: Hoshide
authors.forename: Nawomi
authors.initials: N
authors.lastname: Harada
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoshino
authors.forename: Fumio
authors.initials: F
authors.lastname: Endo
mesh_terms: D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics* / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D010375:Pedigree; D011247:Pregnancy
chemical_list: D004247:DNA; D009954:Ornithine Carbamoyltransferase
keywords: arginine supplementation; blood amino acid analysis; genetic analysis; genetic counseling; late-onset ornithine transcarbamylase deficiency