Inborn error of pyruvate metabolism

MedGen UID:: 19612
•Concept ID:: C0034350
•: Disease or Syndrome

Synonym:	Pyruvate Metabolism, Inborn Errors
SNOMED CT:	Inborn error of pyruvate metabolism (53210006)

Definition

Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVInborn error of pyruvate metabolism

Disease
- Non-Neoplastic Disorder
  - Non-Neoplastic Disorder by Special Category
    - Metabolic disease
      - Carbohydrate metabolism disease
        Inborn carbohydrate metabolic disorder
        Inborn error of pyruvate metabolism
        Leigh syndrome
        Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
        Congenital myasthenic syndrome 16
        Leigh Syndrome (nuclear DNA mutation)
        Leigh syndrome due to mitochondrial complex I deficiency
        Leigh syndrome due to mitochondrial complex II deficiency
        Leigh syndrome due to mitochondrial complex III deficiency
        Leigh syndrome due to mitochondrial complex V deficiency
        Leigh syndrome with cardiomyopathy
        Leigh syndrome with leukodystrophy
        Leigh syndrome with nephrotic syndrome
        Maternally-inherited Leigh syndrome
        Necrotizing encephalomyelopathy, subacute, of Leigh, adult
        Pyruvate carboxylase deficiency
        Pyruvate carboxylase deficiency, benign type
        Pyruvate carboxylase deficiency, infantile form
        Pyruvate carboxylase deficiency, severe neonatal type
        Pyruvate dehydrogenase complex deficiency
        Pyruvate dehydrogenase E1-alpha deficiency
        Pyruvate dehydrogenase E1-beta deficiency
        Pyruvate dehydrogenase E2 deficiency
        Pyruvate dehydrogenase E3 deficiency
        Pyruvate dehydrogenase E3-binding protein deficiency
        Pyruvate dehydrogenase phosphatase deficiency

Professional guidelines

PubMed

Management of pyruvate kinase deficiency in children and adults.

Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739

Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.

Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226

A guide to diagnosis and treatment of Leigh syndrome.

Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060

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Inborn error of pyruvate metabolism

Definition

Term Hierarchy

Professional guidelines

PubMed

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