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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
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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.

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Crossref · 10.1056/nejm198602273140903

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37 of 37 references verified0 citation errors · 0 not checkable

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Citations

Cites

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.

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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

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