TY - JOUR
T1 - Late-onset ornithine transcarbamylase deficiency in male patients
AU - Finkelstein, J. E.
AU - Hauser, E. R.
AU - Leonard, C. O.
AU - Brusilow, S. W.
N1 - Funding Information:
Ornithine transcarbamylase deficiency is an X-linked inborn error of urea synthesis. 1 The most commonly recognized phenotype is seen in term male infants who have vomiting, lethargy, and coma during the neonatal period. If the patients is not treated, death usually occurs within the first week of life. Heterozygous females, although usually symptom free, may have a milder and more variable phenotype. 24 During the past 20 years several reports have described a milder phenotype occurring in male patients. 5-11 We have stratified cases in male patients with OTCD, by the age at onset of symptoms, into a neonatal- Supported by National Institutes of Health grants HD 11134 (S.W.B.), HD 26358 (S.W.B., E.R.H.), GM 07471 (Training Grant in Medical Genetics, J.E.F.), and 5M01 RR00052 (Johns Hopkins University), a Food and Drug Administration grant (FD R-000198), the Kettering Family Foundation (S.W.B., E.R.H.), the M. A. and T. A. O'Malley Foundation (S.W.B., E.R.H.), and the Stetler Research Fund for Women Physicians (J.E.F.). Submitted for publication May 31, 1990; accepted July 31, 1990. Reprint requests: Janice E. Finkelstein, MD, Johns Hopkins Hospital, 600 N. Wolfe St., Park 301, Baltimore, MD 21228.
PY - 1990/12
Y1 - 1990/12
N2 - We report on 21 male patients who presented after 28 days of age with ornithine transcarbamylase (OTC) deficiency, which we define as late-onset OTC deficiency. These patients appeared normal at birth, but irritability, vomiting, and lethargy, which were often episodic, later developed. The age at presentation ranged from 2 months to 44 years. Biochemical testing revealed hyperammonemia, hyperglutaminemia, hypocitrullinemia, increased urinary orotate excretion, and decreased liver OTC activity measured in vitro, which ranged from 0% to 15% of normal. Male patients who were older at presentation had a some what different pattern of presenting symptoms and were more likely to die. These data illustrate the phenotypic variability of OTC deficiency. Unexplained episodes of repetitive or protracted vomiting in association with progressive alterations in behavior or neurologic findings should suggest the diagnosis of a urea cycle defect (or another symptomatic inborn error of metabolism), regardless of the age or medical history of the patient.
AB - We report on 21 male patients who presented after 28 days of age with ornithine transcarbamylase (OTC) deficiency, which we define as late-onset OTC deficiency. These patients appeared normal at birth, but irritability, vomiting, and lethargy, which were often episodic, later developed. The age at presentation ranged from 2 months to 44 years. Biochemical testing revealed hyperammonemia, hyperglutaminemia, hypocitrullinemia, increased urinary orotate excretion, and decreased liver OTC activity measured in vitro, which ranged from 0% to 15% of normal. Male patients who were older at presentation had a some what different pattern of presenting symptoms and were more likely to die. These data illustrate the phenotypic variability of OTC deficiency. Unexplained episodes of repetitive or protracted vomiting in association with progressive alterations in behavior or neurologic findings should suggest the diagnosis of a urea cycle defect (or another symptomatic inborn error of metabolism), regardless of the age or medical history of the patient.
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U2 - 10.1016/S0022-3476(05)80129-5
DO - 10.1016/S0022-3476(05)80129-5
M3 - Article
C2 - 2246687
AN - SCOPUS:0025633857
SN - 0022-3476
VL - 117
SP - 897
EP - 902
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 6
ER -