Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 897-902 |
| Number of pages | 6 |
| Journal | Journal of Pediatrics |
| Volume | 117 |
| Issue number | 6 |
| DOIs | |
| State | Published - 1990 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Late-onset ornithine transcarbamylase deficiency in male patients. / Finkelstein, J. E.; Hauser, E. R.; Leonard, C. O.; Brusilow, S. W.
In: Journal of Pediatrics, Vol. 117, No. 6, 1990, p. 897-902.Research output: Contribution to journal › Article
}
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.
PY - 1990
Y1 - 1990
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
VL - 117
SP - 897
EP - 902
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 6
ER -