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Late-onset ornithine transcarbamylase deficiency in male patients.

Publication ,  Journal Article
Finkelstein, JE; Hauser, ER; Leonard, CO; Brusilow, SW
Published in: J Pediatr
December 1990

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 somewhat 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.

Duke Scholars

Published In

J Pediatr

DOI

ISSN

0022-3476

Publication Date

December 1990

Volume

117

Issue

6

Start / End Page

897 / 902

Location

United States

Related Subject Headings

  • Time Factors
  • Sex Factors
  • Phenotype
  • Pedigree
  • Pediatrics
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Metabolism, Inborn Errors
  • Male
  • Infant
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Finkelstein, J. E., Hauser, E. R., Leonard, C. O., & Brusilow, S. W. (1990). Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr, 117(6), 897–902. https://doi.org/10.1016/s0022-3476(05)80129-5
Finkelstein, J. E., E. R. Hauser, C. O. Leonard, and S. W. Brusilow. “Late-onset ornithine transcarbamylase deficiency in male patients.J Pediatr 117, no. 6 (December 1990): 897–902. https://doi.org/10.1016/s0022-3476(05)80129-5.
Finkelstein JE, Hauser ER, Leonard CO, Brusilow SW. Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr. 1990 Dec;117(6):897–902.
Finkelstein, J. E., et al. “Late-onset ornithine transcarbamylase deficiency in male patients.J Pediatr, vol. 117, no. 6, Dec. 1990, pp. 897–902. Pubmed, doi:10.1016/s0022-3476(05)80129-5.
Finkelstein JE, Hauser ER, Leonard CO, Brusilow SW. Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr. 1990 Dec;117(6):897–902.
Journal cover image

Published In

J Pediatr

DOI

ISSN

0022-3476

Publication Date

December 1990

Volume

117

Issue

6

Start / End Page

897 / 902

Location

United States

Related Subject Headings

  • Time Factors
  • Sex Factors
  • Phenotype
  • Pedigree
  • Pediatrics
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Metabolism, Inborn Errors
  • Male
  • Infant
  • Humans