| 词条 | 2-Methylbutyryl-CoA dehydrogenase deficiency |
| 释义 |
| name = 2-Methylbutyryl-CoA dehydrogenase deficiency | synonyms = | image = 2-Methylbutanoyl-CoA.png | caption = 2-Methylbutyryl-CoA | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} 2-Methylbutyryl-CoA dehydrogenase deficiency, also called 2-Methylbutyryl glycinuria or short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD),[1] is an autosomal recessive metabolic disorder.[2] It causes the body to be unable to process the amino acid isoleucine properly. Initial case reports identified individuals with developmental delay and epilepsy, however most cases identified through newborn screening have been asymptomatic. Signs and symptomsSBCADD is included as a secondary target condition in most newborn screening programs, as the key analyte is the same as is used to identify isovaleric acidemia.[3][4] Most cases have been Hmong individuals, who are asymptomatic.[5] There are isolated case reports where individuals have been identified with SBCADD in addition to developmental delay and epilepsy. It is currently unclear what the complete clinical presentation of SBCADD looks like. There is some concern that these cases with additional symptoms may reflect an ascertainment bias rather than being a true representation of the clinical spectrum of the disease.[1] Currently, there is no accepted treatment, as most affected individuals do not require any. Some recommend avoidance of valproic acid, as it can be a substrate for 2-methylbutyryl-CoA dehydrogenase.[5] Cause and geneticsDiagnosisMost individuals with SBCADD are identified through newborn screening, where they present with an elevation of a five carbon acylcarnitine species.[1] Confirmatory testing includes plasma and urine analysis to identify the carnitine and glycine conjugates of 2-methylbutyryl-CoA.[1] Treatment{{Empty section|date=April 2018}}References1. ^1 2 3 4 {{OMIM|610006|2-Methylbutyryl-CoA dehydrogenase deficiency}} 2. ^1 {{Cite journal | pmid = 17883863 | doi = 10.1186/1752-1947-1-98 | last1 = Kanavin | first1 = O. J. | last2 = Woldseth | first2 = B. | last3 = Jellum | first3 = E. | last4 = Tvedt | first4 = B. | last5 = Andresen | first5 = B. S. | last6 = Stromme | first6 = P. | title = 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: A case report | journal = Journal of Medical Case Reports | volume = 1 | pages = 98 | date = Sep 2007 | pmc = 2045671| type = Free full text }} 3. ^{{Cite journal | last1 = Watson | first1 = M. S. | last2 = Mann | first2 = M. Y. | last3 = Lloyd-Puryear | first3 = M. A. | last4 = Rinaldo | first4 = P. | last5 = Howell | first5 = R. R. | title = Executive Summary | doi = 10.1097/01.gim.0000223891.82390.ad | journal = Genetics in Medicine | volume = 8 | issue = Suppl 1 | pages = 1S–252S | year = 2006 | pmid = 16783161 | pmc =3111605 }} 4. ^{{Cite journal | author1 = American College of Medical Genetics Newborn Screening Expert Group | title = Newborn screening: Toward a uniform screening panel and system--executive summary | journal = Pediatrics | volume = 117 | issue = 5 Pt 2 | pages = S296–S307 | doi = 10.1542/peds.2005-2633I | year = 2006 | pmid = 16735256 | pmc = }} 5. ^1 {{cite book |last1=de Baulny |first1=Helene Ogier |last2=Dionisi-Vici |first2=Carlo |last3=Wendel |first3=Udo |editor1-first=Jean-Marie |editor1-last=Saudubray |editor2-first=Georges |editor2-last=van den Berghe |editor3-first=John H. |editor3-last=Walter |others= |title=Inborn Metabolic Diseases: Diagnosis and Treatment |edition=5th |year=2012 |publisher=Springer |location=New York |isbn= 978-3-642-15719-6 |pages=277–296 |chapter=Branched-chain Organic Acidurias/Acidaemias}} 6. ^{{Cite journal | pmid = 17945527 | doi = 10.1016/j.ymgme.2007.09.002 | last1 = Sass | first1 = J. | last2 = Ensenauer | first2 = R. | last3 = Röschinger | first3 = W. | last4 = Reich | first4 = H. | last5 = Steuerwald | first5 = U. | last6 = Schirrmacher | first6 = O. | last7 = Engel | first7 = K. | last8 = Häberle | first8 = J. | last9 = Andresen | first9 = B. | last10 = Mégarbané | first10 = A. | last11 = Lehnert | first11 = W. | last12 = Zschocke | first12 = J. | title = 2-Methylbutyryl-coenzyme a dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism | journal = Molecular Genetics and Metabolism | volume = 93 | issue = 1 | pages = 30–35 | date = Jan 2008 }} External links{{Medical resources| DiseasesDB = 34413 | ICD10 = | ICD9 = | ICDO = | OMIM = 610006 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = }}{{Amino acid metabolic pathology}} 3 : Amino acid metabolism disorders|Autosomal recessive disorders|Hmong |
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