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Early intervention for late‐onset ornithine transcarbamylase deficiency
Author(s) -
Fujisawa Daisuke,
Mitsubuchi Hiroshi,
Matsumoto Shirou,
Iwai Masanori,
Nakamura Kimitoshi,
Hoshide Ryuji,
Harada Nawomi,
Yoshino Makoto,
Endo Fumio
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12457
Subject(s) - medicine , ornithine transcarbamylase deficiency , asymptomatic , pediatrics , genetic counseling , newborn screening , pregnancy , genetics , arginine , urea cycle , amino acid , biology
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. L ys221 L ys 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.