Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1990 1
2002 1
2005 1
2006 1
2011 1
2012 1
2013 1
2017 1
2018 1
2019 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
Disorders of pyruvate metabolism.
De Meirleir L. De Meirleir L. Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. Handb Clin Neurol. 2013. PMID: 23622387 Review.
Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate metabolism. Diagnosis is made by enzymatic and DNA analysis after basic biochemical tests in plasma, urine, and CSF. Pyruvate dehydrog …
Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate meta …
Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism.
Ambrus A, Adam-Vizi V. Ambrus A, et al. Neurochem Int. 2018 Jul;117:5-14. doi: 10.1016/j.neuint.2017.05.018. Epub 2017 Jun 2. Neurochem Int. 2018. PMID: 28579060 Review.
This review summarizes our present view on the molecular pathogenesis of human (h) E3-deficiency caused by a variety of genetic alterations with a special emphasis on the moonlighting biochemical phenomena related to the affected (dihydro)lipoamide dehydrogenase …
This review summarizes our present view on the molecular pathogenesis of human (h) E3-deficiency caused by a variety of geneti …
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. Patel KP, et al. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. Mol Genet Metab. 2012. PMID: 22079328 Free PMC article. Corrected and republished. Review.
CONTEXT: Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent compr …
CONTEXT: Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with l …
Lipoamide dehydrogenase (LADH) deficiency: medical perspectives of the structural and functional characterization of LADH and its pathogenic variants.
Szabó E, Ambrus A. Szabó E, et al. Biol Futur. 2023 Jun;74(1-2):109-118. doi: 10.1007/s42977-023-00155-6. Epub 2023 Feb 26. Biol Futur. 2023. PMID: 36842090 Review.
(Dihydro)lipoamide dehydrogenase (LADH) deficiency is an autosomal recessive genetic metabolic disorder. ...Severity of the disease is due to the fact that LADH is a common E3 subunit to the pyruvate, alpha-ketoglutarate, alpha-ketoadipate, and branche …
(Dihydro)lipoamide dehydrogenase (LADH) deficiency is an autosomal recessive genetic metabolic disorder. ...Severity of the di …
An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence.
Ambrus A. Ambrus A. Neurochem Res. 2019 Oct;44(10):2307-2313. doi: 10.1007/s11064-019-02766-9. Epub 2019 Mar 7. Neurochem Res. 2019. PMID: 30847858 Free PMC article. Review.
Dihydrolipoamide dehydrogenase (LADH, E3) deficiency is a rare (autosomal, recessive) genetic disorder generally presenting with an onset in the neonatal age and early death; the highest carrier rate has been found among Ashkenazi Jews. Acute clinical episode …
Dihydrolipoamide dehydrogenase (LADH, E3) deficiency is a rare (autosomal, recessive) genetic disorder generally presen …
Genetic defects in human pyruvate dehydrogenase.
Ho L, Wexler ID, Kerr DS, Patel MS. Ho L, et al. Ann N Y Acad Sci. 1989;573:347-59. doi: 10.1111/j.1749-6632.1989.tb15010.x. Ann N Y Acad Sci. 1989. PMID: 2517464 Review.
Defects in 14 cases were shown to involve the E1 component, and there was one case each of an apparent E2 and E3 deficiency. Defects involving the E1 component exhibit heterogeneous expression of E1 proteins and mRNAs, indicating that different types of mutations ca …
Defects in 14 cases were shown to involve the E1 component, and there was one case each of an apparent E2 and E3 deficiency. D …
Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.
Sperl W, Ruitenbeek W, Kerkhof CM, Sengers RC, Trijbels JM, Guggenbichler JP, Janssen AJ, Bakkeren JA. Sperl W, et al. Eur J Pediatr. 1990 Apr;149(7):487-92. doi: 10.1007/BF01959401. Eur J Pediatr. 1990. PMID: 2189731 Review.
The activity of the first component E1 (pyruvate dehydrogenase) in muscle tissue was 10 times lower than that of controls (0.008 nmoles x min-1 x mg protein-1, control range 0.10-0.25). The activities of dihydrolipoyl dehydrogenase (E3) and various oth …
The activity of the first component E1 (pyruvate dehydrogenase) in muscle tissue was 10 times lower than that of controls (0.0 …
Structural basis of the dysfunctioning of human 2-oxo acid dehydrogenase complexes.
Hengeveld AF, de Kok A. Hengeveld AF, et al. Curr Med Chem. 2002 Feb;9(4):499-520. doi: 10.2174/0929867023370996. Curr Med Chem. 2002. PMID: 11945122 Review.
They play a key role in the primary energy metabolism: in glycolysis (pyruvate dehydrogenase complex), the citric acid cycle (2-oxoglutarate dehydrogenase complex) and in amino acid catabolism (branched-chain 2-oxo acid dehydrogenase …
They play a key role in the primary energy metabolism: in glycolysis (pyruvate dehydrogenase complex), the citric acid …
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP. Odièvre MH, et al. Hum Mutat. 2005 Mar;25(3):323-4. doi: 10.1002/humu.9319. Hum Mutat. 2005. PMID: 15712224 Review.
This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD). The E3 subunit is common to two other enzymatic complexes, namely pyruvate dehydrogenase complex (PDC) and branched-chain ketoacid …
This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD). The E3 …
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
Miné M, Brivet M, Schiff M, de Baulny HO, Chuzhanova N, Marsac C. Miné M, et al. Mol Genet Metab. 2006 Sep-Oct;89(1-2):106-10. doi: 10.1016/j.ymgme.2006.06.002. Epub 2006 Jul 13. Mol Genet Metab. 2006. PMID: 16843025 Review.
We report here the molecular analysis of a pyruvate dehydrogenase E3-binding protein (PDH-E3BP) deficiency in a new patient, born to first cousin parents. ...It is the first time that a non-homologous recombination is reported in the PDHX gene causing …
We report here the molecular analysis of a pyruvate dehydrogenase E3-binding protein (PDH-E3BP) deficiency in a …