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Quoted phrase not found in phrase index: "Pyruvate carboxylase deficiency, severe neonatal type"
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. ...Deficiencies in the other subunits have also been described, but in a smaller number of patients. Pyruvate carboxylase …
Pyruvate dehydrogenase and pyruvate carboxylase deficiency are the most common disorders in pyruvate meta …
Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.
Robinson BH, MacKay N, Chun K, Ling M. Robinson BH, et al. J Inherit Metab Dis. 1996;19(4):452-62. doi: 10.1007/BF01799106. J Inherit Metab Dis. 1996. PMID: 8884569 Review.
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 re …
Missplicing mutations involving exon 6 deletion have been reported, as has a missense mutation conferring true thiamin-responsiveness of the …
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
García-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P, Saudubray JM. García-Cazorla A, et al. Ann Neurol. 2006 Jan;59(1):121-7. doi: 10.1002/ana.20709. Ann Neurol. 2006. PMID: 16278852
OBJECTIVE: Pyruvate carboxylase (PC) deficiency is a rare metabolic disease. Recently, therapeutic possibilities have been introduced. ...METHODS: We retrospectively studied nine patients with the severe neonatal form of PC deficiency …
OBJECTIVE: Pyruvate carboxylase (PC) deficiency is a rare metabolic disease. Recently, therapeutic possibilities …
Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.
Almomen M, Sinclair G, Stockler-Ipsiroglu SG, Horvath GA. Almomen M, et al. Neuropediatrics. 2018 Dec;49(6):369-372. doi: 10.1055/s-0038-1667171. Epub 2018 Jul 25. Neuropediatrics. 2018. PMID: 30045381
PC deficiency (OMIM 266150) is a rare autosomal recessive metabolic disease, causing elevation of pyruvate, lactate, and alanine. ...The second subtype or type B, the neonatal or French form, presents usually in the neonatal period, mostl …
PC deficiency (OMIM 266150) is a rare autosomal recessive metabolic disease, causing elevation of pyruvate, lactate, an …
In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
Maryami F, Rismani E, Davoudi-Dehaghani E, Khalesi N, Talebi S, Mahdian R, Zeinali S. Maryami F, et al. Iran Biomed J. 2023 Sep 1;27(5):307-19. doi: 10.61186/ibj.27.5.307. Epub 2023 Jun 19. Iran Biomed J. 2023. PMID: 37873728 Free PMC article.
RESULTS: WES revealed a novel homozygous variant, p.G303Afs*40 and p.R156P, in the pyruvate carboxylase (PC) gene of each neonate, which both were confirmed by Sanger sequencing. ...CONCLUSION: This study confirmed the pathogenicity of both variants and sugge …
RESULTS: WES revealed a novel homozygous variant, p.G303Afs*40 and p.R156P, in the pyruvate carboxylase (PC) gene of each n …
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.
Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, Roe CR, Saudubray JM. Mochel F, et al. Mol Genet Metab. 2005 Apr;84(4):305-12. doi: 10.1016/j.ymgme.2004.09.007. Mol Genet Metab. 2005. PMID: 15781190
Biotin-unresponsive pyruvate carboxylase deficiency type B was diagnosed. Triheptanoin, an odd-carbon triglyceride, was administrated as a source for acetyl-CoA and anaplerotic propionyl-CoA. ...Considering that pyruvate carboxylase is a …
Biotin-unresponsive pyruvate carboxylase deficiency type B was diagnosed. Triheptanoin, an odd-carbon triglyceri …
An atypical French form of pyruvate carboxylase deficiency.
Pineda M, Campistol J, Vilaseca MA, Briones P, Ribes A, Temudo T, Pons M, Cusi V, Rolland MO. Pineda M, et al. Brain Dev. 1995 Jul-Aug;17(4):276-9. doi: 10.1016/0387-7604(95)00057-i. Brain Dev. 1995. PMID: 7503391
A further case of pyruvate carboxylase deficiency, French type, with a particular clinical presentation and evolution is described. ...At the age of 6 months he presented acute neurological symptoms, respiratory difficulty, lactic acidosis and hyperamm …
A further case of pyruvate carboxylase deficiency, French type, with a particular clinical presentation and evol …
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Worthen HG, al Ashwal A, Ozand PT, Garawi S, Rahbeeni Z, al Odaib A, Subramanyam SB, Rashed M. Worthen HG, et al. Brain Dev. 1994 Nov;16 Suppl:81-5. doi: 10.1016/0387-7604(94)90100-7. Brain Dev. 1994. PMID: 7726385 Clinical Trial.
Less than 50% of the patients with MSUD older than 8 months, pyruvate carboxylase deficiency, methylmalonic acidemia, or propionic acidemia had hypoglycemia during metabolic crisis. On the other hand, patients with 3-hydroxy-3-methyl glutaryl-CoA lyase def …
Less than 50% of the patients with MSUD older than 8 months, pyruvate carboxylase deficiency, methylmalonic acidemia, o …