Short-Chain Acyl-CoA Dehydrogenase Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/short-chain-acyl-coa-dehydrogenase-deficiency

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).

genetic conditions

1. Introduction

Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include 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 delay, and a small head size (microcephaly).

The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe condition that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

In some people with SCAD deficiency, signs and symptoms do not appear until adulthood. These individuals are more likely to have problems related to muscle weakness and wasting.

The severity of this condition varies widely, even among members of the same family. Some individuals are diagnosed with SCAD deficiency based on laboratory testing but never develop any symptoms of the condition.

2. Frequency

This disorder is thought to affect approximately 1 in 35,000 to 50,000 newborns.

3. Causes

Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.

Mutations in the ACADS gene lead to a shortage (deficiency) of the SCAD enzyme within cells. Without sufficient amounts of this enzyme, short-chain fatty acids are not metabolized properly. As a result, these fats are not converted into energy, which can lead to the signs and symptoms of this disorder, such as lethargy, hypoglycemia, and muscle weakness. It remains unclear why some people with SCAD deficiency never develop any symptoms.

4. Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

5. Other Names for This Condition

ACADS deficiency
deficiency of butyryl-CoA dehydrogenase
lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency
SCAD deficiency
SCADH deficiency
short-chain acyl-coenzyme A dehydrogenase deficiency

References

Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY.Biochemical, molecular, and clinical characteristics of children with short chainacyl-CoA dehydrogenase deficiency detected by newborn screening in California.Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007.
Gregersen N, Andresen BS, Pedersen CB, Olsen RK, Corydon TJ, Bross P.Mitochondrial fatty acid oxidation defects--remaining challenges. J Inherit MetabDis. 2008 Oct;31(5):643-57. doi: 10.1007/s10545-008-0990-y.
Jethva R, Bennett MJ, Vockley J. Short-chain acyl-coenzyme A dehydrogenasedeficiency. Mol Genet Metab. 2008 Dec;95(4):195-200. doi:10.1016/j.ymgme.2008.09.007.
Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y,Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS.Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitinedetected by tandem mass spectrometry newborn screening. Pediatr Res. 2003Aug;54(2):219-23.
Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D. Thefrequency of short-chain acyl-CoA dehydrogenase gene variants in the USpopulation and correlation with the C(4)-acylcarnitine concentration in newbornblood spots. Mol Genet Metab. 2003 Apr;78(4):239-46.
Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E,Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. TheACADS gene variation spectrum in 114 patients with short-chain acyl-CoAdehydrogenase (SCAD) deficiency is dominated by missense variations leading toprotein misfolding at the cellular level. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9.
Pena L, Angle B, Burton B, Charrow J. Follow-up of patients with short-chainacyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identifiedthrough newborn screening: one center's experience. Genet Med. 2012Mar;14(3):342-7. doi: 10.1038/gim.2011.9.
van Maldegem BT, Kloosterman SF, Janssen WJ, Augustijn PB, van der Lee JH,Ijlst L, Waterham HR, Duran R, Wanders RJ, Wijburg FA. High prevalence ofshort-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but noassociation with epilepsy of unknown origin in childhood. Neuropediatrics. 2011Feb;42(1):13-7. doi: 10.1055/s-0031-1275342.
van Maldegem BT, Wanders RJ, Wijburg FA. Clinical aspects of short-chainacyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 2010 Oct;33(5):507-11.doi: 10.1007/s10545-010-9080-z.
Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, Marsden D.Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of themedical and neurodevelopmental characteristics of 14 cases identified throughnewborn screening or clinical symptoms. Mol Genet Metab. 2008Sep-Oct;95(1-2):39-45. doi: 10.1016/j.ymgme.2008.06.002.

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Nora Tang

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Entry Collection: MedlinePlus

Update Date: 25 Dec 2020

Table of Contents

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1. Introduction

2. Frequency

3. Causes

4. Inheritance

5. Other Names for This Condition

References

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1. Introduction

2. Frequency

3. Causes

3.1. The Gene Associated with Short-chain acyl-CoA Dehydrogenase Deficiency

4. Inheritance

5. Other Names for This Condition

References