SCADD

短鎖アシルCoA脱水素酵素欠損症

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/12/19 21:17:59」(JST)

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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, is an autosomal recessive 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. 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.

Genetics

Chromosome 12

SCADD is caused genetically by mutations in the ACADS gene, located on chromosome 12q22-qter. 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.

The disorder is inherited via autosomal recessive. 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.

Diagnosis

The diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency is based on the following:

• Newborn screening test
• Genetic testing
• Urine test

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.

Treatment and management

Riboflavin

In terms of treatment for short-chain acyl-CoA dehydrogenase deficiency, some individuals may not need treatment, while others might follow administration of:

• Riboflavin
• Dextrose
• Anticonvulsants

Epidemiology

This disorder, epidemiologically speaking, is thought to affect approximately 1 in 50,000 newborns according to Jethva, et al. While in the U.S. state of California there seems to be a ratio of 1 in 35,000.

References

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. 

English Journal

• [Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening].

• Huang XW1, Zhang Y, Yang JB, Hong F, Qian GL, Tong F, Mao HQ, Huang XL, Zhou XL, Yang RL, Zhao ZY.
• Zhonghua er ke za zhi = Chinese journal of pediatrics.Zhonghua Er Ke Za Zhi.2016 Dec 2;54(12):927-930. doi: 10.3760/cma.j.issn.0578-1310.2016.12.011.
• PMID 27938594

• Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.

• An SJ1, Kim SZ2, Kim GH3, Yoo HW3, Lim HH1.
• Korean journal of pediatrics.Korean J Pediatr.2016 Nov;59(Suppl 1):S45-S48. doi: 10.3345/kjp.2016.59.11.S45. Epub 2016 Nov 30.
• PMID 28018444

• Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

• Tonin R1, Caciotti A2, Funghini S3, Pasquini E4, Mooney SD5, Cai B5, Proncopio E4, Donati MA4, Baronio F6, Bettocchi I6, Cassio A6, Biasucci G7, Bordugo A8, la Marca G3, Guerrini R1, Morrone A1.
• BBA clinical.BBA Clin.2016 Mar 10;5:114-9. doi: 10.1016/j.bbacli.2016.03.004. eCollection 2016.
• PMID 27051597

Related Links

• SCAD （スキャド） - 中目黒/イタリアン [食べログ]

SCAD/スキャド (中目黒、代官山、祐天寺/イタリアン)の店舗情報は食べログでチェック！豊富なワインとシャンパンに合わせた季節の食材とチーズ。くつろげるカウンターの空間と個室。中目黒にありそうでなかった、また ...

• SCAD deficiency - Genetics Home Reference

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 ...

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リンク元	「短鎖アシルCoA脱水素酵素欠損症」
関連記事	「SCA」「SCAD」

「短鎖アシルCoA脱水素酵素欠損症」

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英

short-chain acyl-CoA dehydrogenase deficiency, SCADD

同？

短鎖アシルCoA脱水素酵素欠損症候群 deficiency of short-chainacyl-CoA dehydrogenase syndrome

関

短鎖アシルCoA脱水素酵素

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短鎖アシルCoA脱水素酵素欠損症 : 21 件
短鎖アシルCoA脱水素酵素欠損症候群 : 1 件

「SCA」

　　[★]

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• 鎌状赤血球性貧血 sickle cell anemia
• 上小脳動脈 superior cerebellar artery
• 選択的腹腔動脈造影 selective celiac angiography
• 鎖骨下動脈 subclavian artery
• 心臓突然死 心臓突然死 sudden cardiac arrest 突然の心臓停止

「SCAD」

　　[★]

• 短鎖アシルCoA脱水素酵素

関

short-chain acyl-CoA dehydrogenase