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Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency

Annals of Clinical Biochemistry

Apr 22, 2010

Vanessa R ThurlowYusof Rahman

Abstract

There is a lack of awareness of acutely presenting inborn errors of metabolism in adults, of which the X-linked urea cycle defect ornithine transcarbamylase (OTC) deficiency is an example, many comparatively mild mutations having been identified. In male hemizygotes clinical manifestati...read more

Mentioned in this Paper

Metabolic Process, Cellular
Inborn Errors of Metabolism
Urine
Creatinine
Herring allergenic extract
Work-up
Fragile X Syndrome
Hyrex Brand of Dimenhydrinate
Carmol
Urea Cycle
Paper Details
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Late-onset ornithine transcarbamylase deficiency in male patients

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Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency

Annals of Clinical Biochemistry

Apr 22, 2010

Vanessa R ThurlowYusof Rahman

PMID: 20406775

DOI: 10.1258/acb.2010.009250

Abstract

There is a lack of awareness of acutely presenting inborn errors of metabolism in adults, of which the X-linked urea cycle defect ornithine transcarbamylase (OTC) deficiency is an example, many comparatively mild mutations having been identified. In male hemizygotes clinical manifestati...read more

Mentioned in this Paper

Metabolic Process, Cellular
Inborn Errors of Metabolism
Urine
Creatinine
Herring allergenic extract
Work-up
Fragile X Syndrome
Hyrex Brand of Dimenhydrinate
Carmol
Urea Cycle

Similar Papers Found In These Feeds

Triplet Repeat Disorders

Triplet Repeat Disorders are genetic disorders that occur as a result of expansion of trinucleotide repeats in certain genes. Examples include Huntington’s disease, certain types of spinocerebellar ataxia, and Fragile X syndrome, among others. Here is the latest research.

Fragile X Syndrome

Fragile X syndrome is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1) within the X chromosome, leading to deficiency of fragile X mental retardation protein (FMRP). It is cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. Intellectual disability occurs in nearly all males and roughly 50% of females with the full mutation. Discover the latest research on Fragile X syndrome here.

Related Papers

The Journal of Pediatrics

Late-onset ornithine transcarbamylase deficiency in male patients

The Journal of PediatricsDecember 1, 1990
J E FinkelsteinS W Brusilow
Journal of Child Neurology

Neuropsychiatric manifestations in late-onset urea cycle disorder patients

Journal of Child NeurologyAugust 18, 2009
Mercedes SerranoMaria A Vilaseca
Paper Details
References
  • References
  • Citations9
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations9
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