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Cited by 72Metabolism and Genetic DisordersBiochemical Acid Research StudiesMitochondrial Function and Pathology

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex

Robinson, B. H., MacKay, N., Chun, K., Ling, M.·1996·Journal of Inherited Metabolic Disease
DOI 10.1007/bf01799106
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Abstract

The most common defect associated with deficiency of the pyruvate dehydrogenase (PDH) complex occurs in the E1 component, specifically due to mutations in the X-linked E1 alpha gene. Clinical sequelae of these mutations, which range from severe neonatal lactic acidosis to carbohydrate-sensitive ataxia, can be different in males and females depending on the nature of the mutation and, in the case of females, on the X-inactivation pattern in different tissues. Males have a high representation of missense mutations among the patient cohort, while females are much more likely to have DNA rearrangements, particularly toward the 3' end of the coding sequence of the gene. Missplicing mutations involving exon 6 deletion have been reported, as has a missense mutation conferring true thiamin-responsiveness of the enzyme and the patient's clinical symptoms. Pyruvate carboxylase deficiency, on the other hand, is a true autosomal recessive disease, though it has high occurrences in particular ethnic groups, especially in Algonkian-speaking Amerindians and in Arabs. In the former group the defect is a simple type in which material cross-reactive to pyruvate carboxylase antibody is present in cultured cells (CRM+ve). In the latter group, cross-reacting material is rarely present (CRM-ve). The CRM+ve patients can survive into teenage years with careful supervision, while the CRM-ve patients have complications due to hyperammonaemia and dysfunction of the urea cycle and rarely survive beyond 3 months of life.

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  • Pyruvate dehydrogenase's crucial role in brain development is evident in the profound central nervous system dysfunction resulting from mutation of PDH's catalytic subunit.

    “Similarly, glucose oxidation in the citric acid cycle produces most of the energy for the brain, but the crucial role for pyruvate dehydrogenase (PDH) in brain development is evident in the profound central nervous system dysfunction resulting from mutation of PDH’s catalytic subunit (Robinson et al., 1996).”

    From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Robinson et al., 1996

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Authors
Robinson, B. H., MacKay, N., Chun, K., & Ling, M.
Affiliations
University of Toronto (CA)
ORCID
Venue
Journal of Inherited Metabolic Disease
Publisher
Wiley
Published
1996-07
Volume
19
Issue
4
Pages
452-462
ISSN
  • 0141-8955 (ISSN-L)
  • 1573-2665
DOI
10.1007/bf01799106
OpenAlex
W2036198947
Cited by
72
References
36
Citations by year
2026: 4 · 2024: 2 · 2022: 2 · 2020: 6 · 2019: 2 · 2017: 3 · 2016: 3 · 2014: 2 · 2013: 2 · 2012: 5
FWCI
1.10
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Journal of Inherited Metabolic Disease (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Biochemical Acid Research Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Keywords
pyruvate carboxylase deficiency, pyruvate dehydrogenase complex, E1 alpha subunit, X-linked inheritance, lactic acidosis, X chromosome inactivation, missense mutations, DNA rearrangement, exon 6 deletion, autosomal recessive inheritance, Arab patients, cross-reacting material, hyperammonemia
MeSH terms
Amino Acid Sequence, Female, Humans, Male, Molecular Sequence Data, Mutation, Pyruvate Carboxylase, Pyruvate Dehydrogenase Complex, Thiamine, Pyruvate Carboxylase Deficiency Disease, Pyruvate Dehydrogenase Complex Deficiency Disease

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