Early intervention for late‐onset ornithine transcarbamylase deficiency

• Published in: Pediatrics international 2015-02, Vol.57 (1), p.e1-e3
• Main Authors: Fujisawa, Daisuke, Mitsubuchi, Hiroshi, Matsumoto, Shirou, Iwai, Masanori, Nakamura, Kimitoshi, Hoshide, Ryuji, Harada, Nawomi, Yoshino, Makoto, Endo, Fumio
• Format: Article
• Language: English
• Subjects: Age of Onset; arginine supplementation; blood amino acid analysis; Child; Child, Preschool; DNA - genetics; DNA Mutational Analysis; Early intervention; Female; genetic analysis; Genetic counseling; Genetic disorders; Genetic Therapy - methods; Humans; Infant; Infant, Newborn; late‐onset ornithine transcarbamylase deficiency; Male; Medical research; Mutation; Ornithine Carbamoyltransferase - genetics; Ornithine Carbamoyltransferase - metabolism; Ornithine Carbamoyltransferase Deficiency Disease - diagnosis; Ornithine Carbamoyltransferase Deficiency Disease - genetics; Ornithine Carbamoyltransferase Deficiency Disease - therapy; Pediatrics; Pedigree; Pregnancy
• ISSN: 1328-8067; 1442-200X
• DOI: 10.1111/ped.12457

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.