- 同
- short-chain acyl CoA dehydrogenase
WordNet
- any of a number of fishes of the family Carangidae
PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2012/08/05 23:20:16」(JST)
[Wiki en表示]
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (August 2010) |
Short-chain acyl-coenzyme A dehydrogenase deficiency |
Classification and external resources |
ICD-9 |
277.85 |
OMIM |
201470 |
DiseasesDB |
31599 |
Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD), also called ACADS deficiency and SCAD deficiency,[1] is an autosomal recessive[2] fatty acid oxidation disorder which affects enzymes required to break down a certain group of fats called short chain fatty acids.
Contents
- 1 Characteristics
- 2 Cause and Genetics
- 3 Epidemiology
- 4 References
- 5 External links
|
Characteristics
Some affected infants will exhibit vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delays, and a small head size (microcephaly). The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be triggered by periods of fasting or during illnesses such as viral infections. In some cases, signs and symptoms may not appear until adulthood, when some individuals may develop muscle weakness and wasting. Other people with gene mutations that can cause this disorder may have such mild symptoms that they are never diagnosed. Many biochemical geneticists consider this to be a biochemical phenotype with a very mild clinical phenotype or no clinical phenotype.
Cause and Genetics
Short-chain acyl-coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance.
SCADD is caused by mutations in the ACADS gene, located on chromosome 12q22-qter.[3][4] Mutations in the ACADS gene lead to inadequate levels of an enzyme called short-chain acyl-CoA dehydrogenase, which is important for the breakdown of short-chain fatty acids. Reduced levels of this enzyme prevent short-chain fatty acids from being further broken down and processed in the mitochondria (the energy-producing centers inside cells). As a result, these short-chain fatty acids are not converted into energy, which can lead to the signs and symptoms of this disorder, such as lethargy and hypoglycemia.
The disorder is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome (chromosome 12 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Epidemiology
This disorder is thought to affect approximately 1 in 40,000 to 100,000 newborns.
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 201470
- ^ a b Jethva R, B. M.; Bennett, M.; Vockley, J. (Dec 2008). "Mini-Review: Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency" (Free full text). Molecular Genetics and Metabolism 95 (4): 195–200. doi:10.1016/j.ymgme.2008.09.007. PMC 2720545. PMID 18977676. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2720545. edit
- ^ Tein I, Elpeleg O, Ben-Zeev B, et al. (Feb 2008). "Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin". Mol. Genet. Metab. 93 (2): 179–189. doi:10.1016/j.ymgme.2007.09.021. PMID 18054510. http://linkinghub.elsevier.com/retrieve/pii/S1096-7192(07)00417-9.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 606885
External links
- GeneReviews/NCBI/NIH/UW entry on Short-Chain Acyl-CoA Dehydrogenase Deficiency
- Short-chain acyl-coenzyme A dehydrogenase deficiency at NLM Genetics Home Reference
- ACADS gene
- Short-chain acyl-coenzyme A (CoA) dehydrogenase (SCAD) deficiency at NIH's Office of Rare Diseases
- "Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)". Save Babies Through Screening Foundation. http://www.savebabies.org/diseasedescriptions/scadd.php.
- "Acyl CoA dehydrogenase, short chain, deficiency of". Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=26792.
- "SCAD". Disease Information from NORD, National Organization for Rare Disorders, Inc.. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Short%20Chain%20Acyl%20CoA%20Dehydrogenase%20Deficiency%20%28SCAD%29.
- Bok LA, Vreken P, Wijburg FA, et al. (November 2003). "Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder". Pediatrics 112 (5): 1152–5. doi:10.1542/peds.112.5.1152. PMID 14595061. http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=14595061.
Inborn error of lipid metabolism: fatty-acid metabolism disorders (E71.3, 277.81–277.85)
|
|
Synthesis |
Biotinidase deficiency
|
|
Degradation |
Acyl transport
|
Carnitine (Primary, I, II, -acylcarnitine) · Adrenoleukodystrophy
|
|
Beta oxidation
|
General
|
Acyl CoA dehydrogenase (Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain)
Mitochondrial trifunctional protein deficiency: Acute fatty liver of pregnancy
|
|
Unsaturated
|
2,4 Dienoyl-CoA reductase deficiency
|
|
Odd chain
|
Propionic acidemia
|
|
Other
|
3-hydroxyacyl-coenzyme A dehydrogenase deficiency
|
|
|
To acetyl-CoA
|
Malonic aciduria
|
|
Aldehyde
|
Sjögren–Larsson syndrome
|
|
|
|
mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m
|
k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon
|
m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)
|
|
|
|
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
- Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y.
- Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2015 Mar 1;28(3-4):375-80. doi: 10.1515/jpem-2014-0164.
- BACKGROUND: Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports exist on the incidence, spectrum, and clinical presentation features of IEM in southern China.METHOD: From January 2009 to March 2012
- PMID 25781538
- Genotype-based databases for variants causing rare diseases.
- Lanthaler B1, Wieser S2, Deutschmann A1, Schossig A1, Fauth C1, Zschocke J1, Witsch-Baumgartner M3.
- Gene.Gene.2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.
- Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the combined functional effects of variants in both copies of the gene. In some diseases there is often considerable variability of clinical presentation or disease severity, which m
- PMID 25111118
- Metabolic heritability at birth: implications for chronic disease research.
- Ryckman KK1, Smith CJ, Jelliffe-Pawlowski LL, Momany AM, Berberich SL, Murray JC.
- Human genetics.Hum Genet.2014 Aug;133(8):1049-57. doi: 10.1007/s00439-014-1450-4. Epub 2014 May 22.
- Recent genome-wide association studies of the adult human metabolome have identified genetic variants associated with relative levels of several acylcarnitines, which are important clinical correlates for chronic conditions such as type 2 diabetes and obesity. We have previously shown that these sam
- PMID 24850141
Related Links
- Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting). Signs and symptoms of SCAD deficiency may ...
- The clinical findings in those with confirmed short-chain acyl-coA dehydrogenase (SCAD) deficiency range from severe (dysmorphic facial features, feeding difficulties/failure to thrive, metabolic acidosis, ketotic ...
★リンクテーブル★
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
[★]
[★]
[★]
- 関
- short-chain acyl-CoA dehydrogenase