Short-chain acyl-coenzyme A dehydrogenase deficiency

Jump to: navigation, search
Short-chain acyl-coenzyme A dehydrogenase deficiency
ICD-9 277.85
OMIM 201470
DiseasesDB 31599

WikiDoc Resources for Short-chain acyl-coenzyme A dehydrogenase deficiency

Articles

Most recent articles on Short-chain acyl-coenzyme A dehydrogenase deficiency

Most cited articles on Short-chain acyl-coenzyme A dehydrogenase deficiency

Review articles on Short-chain acyl-coenzyme A dehydrogenase deficiency

Articles on Short-chain acyl-coenzyme A dehydrogenase deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Short-chain acyl-coenzyme A dehydrogenase deficiency

Images of Short-chain acyl-coenzyme A dehydrogenase deficiency

Photos of Short-chain acyl-coenzyme A dehydrogenase deficiency

Podcasts & MP3s on Short-chain acyl-coenzyme A dehydrogenase deficiency

Videos on Short-chain acyl-coenzyme A dehydrogenase deficiency

Evidence Based Medicine

Cochrane Collaboration on Short-chain acyl-coenzyme A dehydrogenase deficiency

Bandolier on Short-chain acyl-coenzyme A dehydrogenase deficiency

TRIP on Short-chain acyl-coenzyme A dehydrogenase deficiency

Clinical Trials

Ongoing Trials on Short-chain acyl-coenzyme A dehydrogenase deficiency at Clinical Trials.gov

Trial results on Short-chain acyl-coenzyme A dehydrogenase deficiency

Clinical Trials on Short-chain acyl-coenzyme A dehydrogenase deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Short-chain acyl-coenzyme A dehydrogenase deficiency

NICE Guidance on Short-chain acyl-coenzyme A dehydrogenase deficiency

NHS PRODIGY Guidance

FDA on Short-chain acyl-coenzyme A dehydrogenase deficiency

CDC on Short-chain acyl-coenzyme A dehydrogenase deficiency

Books

Books on Short-chain acyl-coenzyme A dehydrogenase deficiency

News

Short-chain acyl-coenzyme A dehydrogenase deficiency in the news

Be alerted to news on Short-chain acyl-coenzyme A dehydrogenase deficiency

News trends on Short-chain acyl-coenzyme A dehydrogenase deficiency

Commentary

Blogs on Short-chain acyl-coenzyme A dehydrogenase deficiency

Definitions

Definitions of Short-chain acyl-coenzyme A dehydrogenase deficiency

Patient Resources / Community

Patient resources on Short-chain acyl-coenzyme A dehydrogenase deficiency

Discussion groups on Short-chain acyl-coenzyme A dehydrogenase deficiency

Patient Handouts on Short-chain acyl-coenzyme A dehydrogenase deficiency

Directions to Hospitals Treating Short-chain acyl-coenzyme A dehydrogenase deficiency

Risk calculators and risk factors for Short-chain acyl-coenzyme A dehydrogenase deficiency

Healthcare Provider Resources

Symptoms of Short-chain acyl-coenzyme A dehydrogenase deficiency

Causes & Risk Factors for Short-chain acyl-coenzyme A dehydrogenase deficiency

Diagnostic studies for Short-chain acyl-coenzyme A dehydrogenase deficiency

Treatment of Short-chain acyl-coenzyme A dehydrogenase deficiency

Continuing Medical Education (CME)

CME Programs on Short-chain acyl-coenzyme A dehydrogenase deficiency

International

Short-chain acyl-coenzyme A dehydrogenase deficiency en Espanol

Short-chain acyl-coenzyme A dehydrogenase deficiency en Francais

Business

Short-chain acyl-coenzyme A dehydrogenase deficiency in the Marketplace

Patents on Short-chain acyl-coenzyme A dehydrogenase deficiency

Experimental / Informatics

List of terms related to Short-chain acyl-coenzyme A dehydrogenase deficiency


Short-chain acyl-coenzyme A dehydrogenase deficiency (or "SCADD") is a fatty acid oxidation disorder which affects enzymes required to break down a certain group of fats called short chain fatty acids.

Diagnosis

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.

Genetics

Mutations in the ACADS gene cause short-chain acyl-coenzyme A dehydrogenase deficiency. Mutations in the ACADS gene lead to inadequate levels of an enzyme called short-chain acyl-CoA dehydrogenase. This enzyme 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.

Short-chain acyl-coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance.

This condition is an autosomal recessive disorder, which means two copies of the faulty gene must be inherited to be afflicted with the disorder. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene, but do not have the disorder. This disorder is thought to affect approximately 1 in 40,000 to 100,000 newborns.

External links

  • 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.
  • "Acyl CoA dehydrogenase, short chain, deficiency of". Orphanet.
  • "SCAD". Disease Information from NORD, National Organization for Rare Disorders, Inc.
  • Bok LA, Vreken P, Wijburg FA; et al. (2003). "Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder". Pediatrics. 112 (5): 1152–5. PMID 14595061. Unknown parameter |month= ignored (help)



Linked-in.jpg