Short-chain acyl-coenzyme A dehydrogenase deficiency
(Redirected from ACADS deficiency)
Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD), is an autosomal recessive[1] fatty acid oxidation disorder which affects enzymes required to break down a certain group of fats called short chain fatty acids.
[medical citation needed]
Signs and symptoms[edit | edit source]
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.[2][3] 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.[2][4]
Genetics[edit | edit source]
SCADD is caused genetically by mutations in the ACADS gene, located on chromosome 12q22-qter.[5] 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.[4][6]
The disorder is inherited via autosomal recessive.[1] 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.[4][7]
Diagnosis[edit | edit source]
The diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency is based on the following:
- Newborn screening test[8]
- Genetic testing[9]
- Urine test[4]
Differential diagnosis[edit | edit source]
The differential diagnosis for short-chain acyl-coenzyme A dehydrogenase deficiency is: ethylmalonic encephalopathy, mitochondrial respiratory chain defects and multiple acyl-CoA dehydrogenase deficiency.[4]
Treatment[edit | edit source]
In terms of treatment for short-chain acyl-CoA dehydrogenase deficiency, some individuals may not need treatment, while others might follow administration of:[3]
Epidemiology[edit | edit source]
This disorder, epidemiologically speaking, is thought to affect approximately 1 in 50,000 newborns according to Jethva, et al.[1] While in the U.S. state of California there seems to be a ratio of 1 in 35,000.[4]
References[edit | edit source]
- ↑ 1.0 1.1 1.2
- ↑ 2.0 2.1 "Short-chain acyl-CoA dehydrogenase deficiency | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 30 October 2016.
- ↑ 3.0 3.1 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Short chain acyl CoA dehydrogenase deficiency". www.orpha.net. Retrieved 2016-10-30.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ↑ 4.0 4.1 4.2 4.3 4.4 4.5 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[edit | edit source]
External links[edit | edit source]
| Classification | |
|---|---|
| External resources |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
