Short-chain acyl-coenzyme A dehydrogenase deficiency
| Short-chain acyl-coenzyme A dehydrogenase deficiency | |
|---|---|
 | |
| Short-chain acyl-coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance | |
| Classification and external resources | |
| ICD-9-CM | 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.
Signs/symptoms
Short-chain acyl-coenzyme A dehydrogenase deficiency affected infants will have vomiting, low blood sugar, a lack of energy (lethargy), poor feeding, and failure to gain weight and grow. Additional features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delays, and microcephaly.[3][4] The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be triggered during illnesses such as viral infections. In some cases, signs and symptoms may not appear until adulthood, when some individuals may develop muscle weakness , while other individuals mild symptoms may never be diagnosed.[3][5]
Genetics
SCADD is caused genetically by mutations in the ACADS gene, located on chromosome 12q22-qter.[6] Mutations in the ACADS gene lead to inadequate levels of short-chain acyl-CoA dehydrogenase, which is important for breaking down short-chain fatty acids. Low levels of this enzyme halt short-chain fatty acids from being further broken down and processed in the mitochondria, consequently, these short-chain fatty acids are not converted into energy.[5][7]
The disorder is inherited via autosomal recessive.[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 are needed in order to be born with this disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene.[5][8]
Diagnosis
The diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency is based on the following:
- Newborn screening test[9]
- Genetic testing[10]
- Urine test[5]
Differential diagnosis
The differential diagnosis for short-chain acyl-coenzyme A dehydrogenase deficiency is: ethylmalonic encephalopathy, mitochondrial respiratory chain defects and multiple acyl-CoA dehydrogenase deficiency.[5]
Treatment and management
In terms of treatment for short-chain acyl-CoA dehydrogenase deficiency, some individuals may not need treatment, while others might follow administration of:[4]
Epidemiology
This disorder, epidemiologically speaking, is thought to affect approximately 1 in 50,000 newborns according to Jethva, et al.[2] While in the U.S. state of California there seems to be a ratio of 1 in 35,000.[5]
References
- ↑ Online Mendelian Inheritance in Man (OMIM) 201470
- 1 2 3 Jethva R, B. M.; Bennett, M.; Vockley, J. (Dec 2008). "Mini-Review: Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency". Molecular Genetics and Metabolism (Free full text). 95 (4): 195–200. doi:10.1016/j.ymgme.2008.09.007. PMC 2720545
. PMID 18977676. - 1 2 "Short-chain acyl-CoA dehydrogenase deficiency | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 30 October 2016.
- 1 2 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Short chain acyl CoA dehydrogenase deficiency". www.orpha.net. Retrieved 2016-10-30.
- 1 2 3 4 5 6 Wolfe, Lynne; Jethva, Reena; Oglesbee, Devin; Vockley, Jerry (1 January 1993). "Short-Chain Acyl-CoA Dehydrogenase Deficiency". GeneReviews(®). University of Washington, Seattle. Retrieved 30 October 2016.update 2014
- ↑ Online Mendelian Inheritance in Man (OMIM) 606885
- ↑ Reference, Genetics Home. "SCAD deficiency". Genetics Home Reference. Retrieved 30 October 2016.
- ↑ "Autosomal recessive: MedlinePlus Medical Encyclopedia". medlineplus.gov. NIH. Retrieved 30 October 2016.
- ↑ "Newborn screening tests: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 30 October 2016.
- ↑ "Deficiency of butyryl-CoA dehydrogenase - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. NIH. Retrieved 30 October 2016.
Further reading
- Pena, Loren; Angle, Brad; Burton, Barbara; Charrow, Joel (1 March 2012). "Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience". Genetics in Medicine. 14 (3): 342–347. doi:10.1038/gim.2011.9. ISSN 1098-3600. Retrieved 30 October 2016.
- Fernandes, John; Saudubray, Jean-Marie; Berghe, Georges van den; Walter, John H. Inborn Metabolic Diseases: Diagnosis and Treatment. Springer Science & Business Media. ISBN 9783540287858. Retrieved 30 October 2016.
