CoChat
Sign Up
Cited by 135Metabolism and Genetic DisordersAmino Acid Enzymes and MetabolismNeonatal Health and Biochemistry

The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.

Natural History of Symptomatic Partial Ornithine Transcarbamylase Deficiency

Rowe, Peter C., Newman, Stephen L., Brusilow, Saul. W.·1986·New England Journal of Medicine
DOI 10.1056/nejm198602273140903
Open this paper in CoChat — free account

Abstract

We reviewed the natural history and differential diagnosis of ornithine transcarbamylase deficiency (an X-linked inborn error of urea synthesis) in 13 symptomatic female heterozygotes. The patients presented as early as the first week of life or as late as the sixth year. The most common symptoms before diagnosis were nonspecific: episodic extreme irritability (100 percent), episodic vomiting and lethargy (100 percent), protein avoidance (92 percent), ataxia (77 percent), Stage II coma (46 percent), delayed physical growth (38 percent), developmental delay (38 percent), and seizures (23 percent). Including the proband, 42 percent of the female members of the 13 families studied had symptoms. The median interval between the onset of major symptoms (vomiting and lethargy, seizures, and coma) and diagnosis was 16 months (range, 1 to 142). Five patients had IQ scores below 70 at the time of diagnosis. We suggest that careful evaluation of the family history, the dietary history, the episodic nature of the nonspecific symptoms, the response of these symptoms to the withdrawal of protein, and their frequent onset at the time of weaning from breast milk will permit early diagnosis and might thereby reduce the risk of death or neurologic impairment in female patients with partial ornithine transcarbamylase deficiency.

Overview

Integrity signals

Registry

Crossref · 10.1056/nejm198602273140903

Cites

37 of 37 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

Show all 37 references

Research works printed but not linked: 4

  1. Shih VE. Urea cycle disorders and other congenital hyperammonemic syndromes. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, eds. The metabolic basis of inherited disease. 4th ed. New York: McGraw-Hill, 1978:362–86.
  2. Ricciuti, 1976, Am J Hum Genet, 28, 332
  3. Crocker, 1981, Can Med Assoc J, 124, 375
  4. Nuzum CT, Snodgrass PJ. Multiple assays of the five urea-cycle enzymes in human liver homogenates. In: Grisolia S, Báguena R, Mayor F, eds. The urea cycle. New York: John Wiley, 1976:325–49.

Cited by

Sorted by citations

See all 135

Related

Metadata

Authors
Rowe, P. C., Newman, S. L., & Brusilow, S. W.
Affiliations
Johns Hopkins University (US)
ORCID
Rowe, Peter C.
Venue
New England Journal of Medicine
Publisher
Massachusetts Medical Society
Published
1986-02-27
Volume
314
Issue
9
Pages
541-547
ISSN
  • 0028-4793 (ISSN-L)
  • 1533-4406
DOI
10.1056/nejm198602273140903
OpenAlex
W2314119136
Cited by
135
References
37
Citations by year
2025: 2 · 2024: 2 · 2023: 1 · 2022: 3 · 2020: 2 · 2019: 4 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 3 · 2014: 2 · 2013: 2 · 2012: 1
FWCI
2.75
Type
journal article
Language
en
Open access
closed
Locations
  • New England Journal of Medicine (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Center for Research Resources (RR 0052)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD11134)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
Keywords
ornithine transcarbamylase deficiency, female heterozygotes, natural history (disease), differential diagnosis, developmental delay, seizures, coma, early diagnosis, neurological deficit
MeSH terms
Amino Acid Metabolism, Inborn Errors, Ammonia, Ataxia, Child, Preschool, Coma, Diagnosis, Differential, Dietary Proteins, Female, Food Preferences, Growth Disorders, Humans, Infant, Infant, Newborn, Irritable Mood, Orotic Acid, Phenotype, Seizures, Sleep Stages, Vomiting, Ornithine Carbamoyltransferase Deficiency Disease

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review