isovaleryl-CoA dehydrogenase
अंतिम अद्यतन 18 Aug 2020
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
यह IVD gene provides instructions for making an enzyme called isovaleryl-CoA dehydrogenase. This enzyme plays an essential role in processing proteins obtained from the diet. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. In cells throughout the body, isovaleryl-CoA dehydrogenase is found within specialized structures called mitochondria. Mitochondria convert energy from food to a form that cells can use.
Normal function
यह IVD gene provides instructions for making an enzyme called isovaleryl-CoA dehydrogenase. This enzyme plays an essential role in processing proteins obtained from the diet. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. In cells throughout the body, isovaleryl-CoA dehydrogenase is found within specialized structures called mitochondria. Mitochondria convert energy from food to a form that cells can use.
Isovaleryl-CoA dehydrogenase helps process a particular amino acid called leucine. Specifically, this enzyme is responsible for the third step in the breakdown of leucine. This step is a chemical reaction that converts a molecule called isovaleryl-CoA to another molecule, 3-methylcrotonyl-CoA. Additional chemical reactions convert 3-methylcrotonyl-CoA into molecules that are used for energy.
Conditions referring to this gene or chromosome
Other names
ACAD2
isovaleryl CoA dehydrogenase
IVD_HUMAN
Related patient information and medicines
Patient information leaflet
नवजात रक्त धब्बा परीक्षण
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.
Patient information leaflet
गर्भवती होने की योजना बना रही हैं
This leaflet offers advice for women who are planning to become pregnant. The aim is to plan ahead to reduce the risk of any harm to the baby and to reduce the risk of pregnancy complications. Fragile X syndrome. Haemophilias A and B. Glucose-6-phosphate dehydrogenase deficiency. Other medical conditions Other conditions for which it is best to.
Patient information leaflet
अंडकोष का कैंसर
अंडकोष का कैंसर है a cancer that arises from a testicle (testis). Around half of all cases occur in men aged under 35 but testicular cancer rarely occurs before puberty. Another useful test i... The tumour markers commonly tested for are alpha-fetoprotein (AFP), beta human chorionic gonadotrophin (beta-hCG), lactic dehydrogenase (LDH) and.
Patient information leaflet
पीलिया
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. What is jaundice. पीलिया है due to a build-up of a chemical called bilirubin in the tissues of the body. Bilirubin is a normal body chemical but can build up to abnormally high.
Patient information leaflet
क्या मैं डेविल्स क्लॉ और विटामिन सी को एक साथ ले सकता हूँ?
There are no known significant interactions between devil's claw and vitamin C. It is generally considered safe to take these two supplements together. Why this happens Devil's claw and vitamin C are processed by the body through different pathways and do not interfere with each other's absorption, metabolism, or effects. What you should do You.
Patient information leaflet
गठिया
Gout causes attacks of pain and swelling in one or more joints. An anti-inflammatory painkiller usually eases an attack quickly. Lifestyle factors may reduce the risk of having gout attacks. These include losing weight (if overweight), eating a healthy diet and not drinking a lot of alcohol or sugar-sweetened soft drinks. If gout attacks are.
अधिक पठन और संदर्भ
- isovaleryl-CoA dehydrogenase; MedlinePlus, National Library of Medicine.
- Ensenauer R, Fingerhut R, Maier EM, Polanetz R, Olgemoller B, Roschinger W, Muntau AC. Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns. Clin Chem. 2011 Apr;57(4):623-6. doi: 10.1373/clinchem.2010.151134. Epub 2011 Feb 18.
- Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14.
- Lin WD, Wang CH, Lee CC, Lai CC, Tsai Y, Tsai FJ. Genetic mutation profile of isovaleric acidemia patients in Taiwan. Mol Genet Metab. 2007 Feb;90(2):134-9. doi: 10.1016/j.ymgme.2006.08.011. Epub 2006 Oct 4.
- Mohsen AW, Anderson BD, Volchenboum SL, Battaile KP, Tiffany K, Roberts D, Kim JJ, Vockley J. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry. 1998 Jul 14;37(28):10325-35. doi: 10.1021/bi973096r.
- Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95-103. doi: 10.1002/ajmg.c.30089.
- Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W. Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. Am J Hum Genet. 2000 Feb;66(2):356-67. doi: 10.1086/302751.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.