Pyruvate dehydrogenase deficiency
עודכן לאחרונה 24 Jun 2021
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Pyruvate dehydrogenase deficiency is characterised by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.
תיאור
Pyruvate dehydrogenase deficiency is characterised by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; X-linked. More than one pattern can apply in different cases.
Related genes
Other names
Ataxia with lactic acidosis
Intermittent ataxia with pyruvate dehydrogenase deficiency
PDH deficiency
PDHC deficiency
Pyruvate dehydrogenase complex deficiency
Related patient information and medicines
Patient information leaflet
אנמיה
אנמיה means that you have fewer red דם cells than normal or you have less haemoglobin than normal in each red blood cell. Conditions where there are haemoglobin abnormalities such as sickle cell anaemia or thalassaemia - these are discussed below. And problems with the chemicals (or enzymes) that help the blood cell do its job, such as G6PD.
Patient information leaflet
האם אני יכול לקחת ויטמין B12 וויטמין C יחד?
חוסר ב-G6PD Very high doses of vitamin C can cause oxidative stress and lead to the breakdown of red blood cells (haemolysis) in individuals with G6PD deficiency. Food and drink wa... Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Disclaimer.
Patient information leaflet
צהבת
Jaundice means that the skin and other body parts turn a yellow colour. It is vital to diagnose the cause of jaundice and therefore important to always seek medical help. Jaundice treatment and outlook (prognosis) depends on the cause. What is jaundice. Jaundice is due to a build-up of a chemical called bilirubin in the tissues of the body..
Patient information leaflet
האם אני יכול לקחת ג'ינג'ר וויטמין C יחד?
Kidney stones (Calcium oxalate) High doses of Vitamin C can significantly increase the amount of oxalate in your urine, which may lead to the formation of kidney stones, especially if you have a history of them. חוסר ב-G6PD אם יש לך glucose-6-phosphate dehydrogenase (G6PD) deficiency, high doses of vitamin C can cause your red blood cells.
Patient information leaflet
האם אני יכול לקחת ציפורן השטן וויטמין C יחד?
Kidney stones (oxalate) High doses of vitamin C can increase the amount of oxalate in your urine, significantly raising the risk of developing kidney stones, especially if you have a history of them. חוסר ב-G6PD אם יש לך glucose-6-phosphate dehydrogenase (G6PD) deficiency, high doses of vitamin C can cause your red blood cells to break down.
Patient information leaflet
בדיקת דם ליילוד
Mothers of all newborn babies are offered testing for certain rare but serious health conditions by testing blood taken from the baby's heel. Medium-chain acyl-Co-A dehydrogenase deficiency (MCADD)- this is a very rare, but potentially life-threatening, inherited disorder, where fat cannot be broken down by the body as well as usual. Babies with.
קריאה נוספת והפניות
- Pyruvate dehydrogenase deficiency; MedlinePlus, National Library of Medicine.
- Brown RM, Head RA, Brown GK. Pyruvate dehydrogenase E3 binding protein deficiency. Hum Genet. 2002 Feb;110(2):187-91. doi: 10.1007/s00439-001-0665-3. Epub 2002 Jan 22.
- Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. Am J Hum Genet. 1995 Mar;56(3):558-69.
- Ganetzky R, McCormick EM, Falk MJ. Primary Pyruvate Dehydrogenase Complex Deficiency Overview. 2021 Jun 17. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK571223/
- Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol. 2005 Aug;58(2):234-41. doi: 10.1002/ana.20550.
- Hong YS, Kerr DS, Liu TC, Lusk M, Powell BR, Patel MS. Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing. Biochim Biophys Acta. 1997 Dec 31;1362(2-3):160-8. doi: 10.1016/s0925-4439(97)00073-2.
- Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Mine M, Marsac C, Saudubray JM, Brivet M. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18.
- Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab. 2005 Jul;90(7):4101-7. doi: 10.1210/jc.2005-0123. Epub 2005 Apr 26.
- Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA 3rd, Ficicioglu C, Hertecant J, Patel MS, Kerr DS. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. Mol Genet Metab. 2008 Apr;93(4):371-80. doi: 10.1016/j.ymgme.2007.10.135. Epub 2008 Mar 4.
- Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7.
- Willemsen M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E. Females with PDHA1 gene mutations: a diagnostic challenge. Mitochondrion. 2006 Jun;6(3):155-9. doi: 10.1016/j.mito.2006.03.001. Epub 2006 May 19.
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