Dihydrolipoamide dehydrogenase deficiency
آخر تحديث 26 يوليو 2023
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals.
الوصف
Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals.
A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially life-threatening buildup of lactic acid in tissues (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. Neurological problems are also common in this condition; the first symptoms in affected infants are often decreased muscle tone (hypotonia) and extreme tiredness (lethargy). As the problems worsen, affected infants can have difficulty feeding, decreased alertness, and seizures.
Liver problems can also occur in dihydrolipoamide dehydrogenase deficiency, ranging from an enlarged liver (hepatomegaly) to life-threatening liver failure. In some affected people, liver disease, which can begin anytime from infancy to adulthood, is the primary symptom. The liver problems are usually associated with recurrent vomiting and abdominal pain. Rarely, people with dihydrolipoamide dehydrogenase deficiency experience weakness of the muscles used for movement (skeletal muscles), particularly during exercise; droopy eyelids; or a weakened heart muscle (cardiomyopathy). Other features of this condition include excess ammonia in the blood (hyperammonemia), a buildup of molecules called ketones in the body (ketoacidosis), or low blood glucose levels (hypoglycemia).
Typically, the signs and symptoms of dihydrolipoamide dehydrogenase deficiency occur in episodes that may be triggered by fever, injury, or other stresses on the body. Affected individuals are usually symptom-free between episodes. Many infants with this condition do not survive the first few years of life because of the severity of these episodes. Affected individuals who survive past early childhood often have delayed growth and neurological problems, including intellectual disability, muscle stiffness (spasticity), difficulty coordinating movements (ataxia), and seizures.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Dihydrolipoyl dehydrogenase deficiency
DLD deficiency
E3 deficiency
Lactic acidosis due to LAD deficiency
Lactic acidosis due to lipoamide dehydrogenase deficiency
Lipoamide dehydrogenase deficiency
Maple syrup urine disease, type III
Related patient information and medicines
Patient information leaflet
نقص فيتامين د
فيتامين د deficiency happens when your body does not have enough vitamin D. This is a nutrient that helps keep bones, teeth, and muscles healthy. Vitamin D deficiency is common, especially in people who get little sunlight or have low vitamin D intake from their diet. What is vitamin D deficiency. Vitamin D deficiency means you don’t have enough.
Patient information leaflet
اختبار بقعة الدم لحديثي الولادة
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
هل يمكنني تناول فيتامين ب المركب وفيتامين ج معًا؟
It is best to take your vitamins with water rather than tea or coffee. Using other medicines Taking multiple medicines. Our مدقق تفاعلات الأدوية helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for your medicines to see potential interactions and what to do.
Patient information leaflet
اليرقان
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
هل يمكنني تناول مخلب الشيطان وفيتامين سي معًا؟
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. G6PD deficiency If you have glucose-6-phosphate dehydrogenase (G6PD) deficiency, high doses of vitamin C can cause your red blood cells to break down.
Patient information leaflet
هل يمكنني تناول فيتامين ب12 وفيتامين ج معًا؟
نقص 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. لدينا مدقق تفاعلات الأدوية helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. Simply search for... Disclaimer.
قراءة إضافية ومراجع
- Dihydrolipoamide dehydrogenase deficiency; MedlinePlus, National Library of Medicine.
- Ambrus A, Adam-Vizi V. Molecular dynamics study of the structural basis of dysfunction and the modulation of reactive oxygen species generation by pathogenic mutants of human dihydrolipoamide dehydrogenase. Arch Biochem Biophys. 2013 Oct 15;538(2):145-55. doi: 10.1016/j.abb.2013.08.015. Epub 2013 Sep 3.
- Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chretien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P. Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. Mol Genet Metab. 2013 May;109(1):28-32. doi: 10.1016/j.ymgme.2013.01.017. Epub 2013 Feb 1.
- Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. Hum Mutat. 2005 Mar;25(3):323-4. doi: 10.1002/humu.9319.
- Quinonez SC, Leber SM, Martin DM, Thoene JG, Bedoyan JK. Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency. Pediatr Neurol. 2013 Jan;48(1):67-72. doi: 10.1016/j.pediatrneurol.2012.09.013.
- Quinonez SC, Thoene JG. Dihydrolipoamide Dehydrogenase Deficiency. 2014 Jul 17 [updated 2021 Sep 30]. 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/NBK220444/
- Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P. Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S315-9. doi: 10.1007/s10545-010-9169-4. Epub 2010 Jul 21.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
26 يوليو 2023 | أحدث إصدار
1 Sept 2014 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.