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Deficiency of butyryl-CoA dehydrogenase(ACADSD)

MedGen UID:
90998
Concept ID:
C0342783
Disease or Syndrome
Synonyms: ACADSD; ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency; SCAD DEFICIENCY, MILD; Short chain acyl CoA dehydrogenase deficiency; Short Chain Acyl-CoA Dehydrogenase Deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Deficiency of unsaturated acyl-CoA reductase (124166007); Deficiency of butyryl dehydrogenase (124166007); Deficiency of butyryl-CoA dehydrogenase (124166007); Butyryl-CoA dehydrogenase deficiency (124166007); SCAD - Short chain acyl-CoA dehydrogenase deficiency (124166007); Short chain acyl-CoA dehydrogenase deficiency (124166007)
 
Gene (location): ACADS (12q24.31)
OMIM®: 201470
Orphanet: ORPHA26792

Disease characteristics

Excerpted from the GeneReview: Short-Chain Acyl-CoA Dehydrogenase Deficiency
The clinical findings in those with confirmed short-chain acyl-coA dehydrogenase (SCAD) deficiency range from severe (dysmorphic facial features, feeding difficulties/failure to thrive, metabolic acidosis, ketotic hypoglycemia, lethargy, developmental delay, seizures, hypotonia, dystonia, and myopathy) to normal. As in other fatty acid oxidation disorders, characteristic biochemical findings of SCAD deficiency may be absent except during times of physiologic stress such as fasting and illness. In the largest series of affected individuals published to date, 20% had failure to thrive, feeding difficulties, and hypotonia; 22% had seizures, and 30% had hypotonia without seizures. In contrast, the majority of infants with SCAD deficiency have been detected by expanded newborn screening, and the great majority of these infants remain asymptomatic. Because most infants with SCAD deficiency identified through newborn screening programs have been well at the time of diagnosis and asymptomatic relatives who meet diagnostic criteria are reported, the relationship of clinical manifestations to SCAD deficiency has come into question.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Lynne Wolfe  |  Reena Jethva  |  Devin Oglesbee, et. al.   view full author information

Additional descriptions

From OMIM
SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. With the advent of screening for inborn errors of metabolism, patients with putative pathogenic mutations but who remain asymptomatic have also been identified (summary by Shirao et al., 2010).  http://www.omim.org/entry/201470
From GHR
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 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.  http://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency

Clinical features

Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Sign or Symptom
Slower than normal rate of weight increase.
Ethylmalonic aciduria
MedGen UID:
355967
Concept ID:
C1865353
Finding
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
External ophthalmoplegia
MedGen UID:
504486
Concept ID:
CN000510
Finding
Paralysis of the external ocular muscles.
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Psychosis
MedGen UID:
504566
Concept ID:
CN000666
Finding
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Lethargy
MedGen UID:
504769
Concept ID:
CN001149
Finding
A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Abnormality of the cerebral white matter
MedGen UID:
425101
Concept ID:
CN002271
Finding
An abnormality of the cerebral white matter.
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Cardiomyopathy
MedGen UID:
504883
Concept ID:
CN001491
Finding
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Episodic metabolic acidosis
MedGen UID:
347447
Concept ID:
C1857411
Finding
Ethylmalonic aciduria
MedGen UID:
355967
Concept ID:
C1865353
Finding
External ophthalmoplegia
MedGen UID:
504486
Concept ID:
CN000510
Finding
Paralysis of the external ocular muscles.
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Myopathy
MedGen UID:
505479
Concept ID:
CN002886
Finding
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGDeficiency of butyryl-CoA dehydrogenase

Recent clinical studies

Etiology

Edhager AV, Stenbroen V, Nielsen NS, Bross P, Olsen RK, Gregersen N, Palmfeldt J
Mol Genet Metab 2014 Mar;111(3):360-8. Epub 2014 Jan 24 doi: 10.1016/j.ymgme.2014.01.007. [Epub ahead of print] PMID: 24485985
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
Mol Genet Metab 2012 May;106(1):55-61. Epub 2012 Feb 9 doi: 10.1016/j.ymgme.2012.02.007. [Epub ahead of print] PMID: 22424739
van Maldegem BT, Kloosterman SF, Janssen WJ, Augustijn PB, van der Lee JH, Ijlst L, Waterham HR, Duran R, Wanders RJ, Wijburg FA
Neuropediatrics 2011 Feb;42(1):13-7. Epub 2011 Apr 15 doi: 10.1055/s-0031-1275342. [Epub ahead of print] PMID: 21500142
Zolkipli Z, Pedersen CB, Lamhonwah AM, Gregersen N, Tein I
PLoS One 2011 Apr 1;6(4):e17534. doi: 10.1371/journal.pone.0017534. PMID: 21483766Free PMC Article
van Maldegem BT, Duran M, Wanders RJ, Waterham HR, Wijburg FA
Pediatr Res 2010 Mar;67(3):304-8. doi: 10.1203/PDR.0b013e3181cbd57b. PMID: 19952864

Diagnosis

Jiang M, Liu L, Peng M, Liang C, Sheng H, Cai Y
J Pediatr Endocrinol Metab 2012;25(7-8):795-7. doi: 10.1515/jpem-2012-0185. PMID: 23155713
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
Mol Genet Metab 2012 May;106(1):55-61. Epub 2012 Feb 9 doi: 10.1016/j.ymgme.2012.02.007. [Epub ahead of print] PMID: 22424739
van Maldegem BT, Kloosterman SF, Janssen WJ, Augustijn PB, van der Lee JH, Ijlst L, Waterham HR, Duran R, Wanders RJ, Wijburg FA
Neuropediatrics 2011 Feb;42(1):13-7. Epub 2011 Apr 15 doi: 10.1055/s-0031-1275342. [Epub ahead of print] PMID: 21500142
van Maldegem BT, Wanders RJ, Wijburg FA
J Inherit Metab Dis 2010 Oct;33(5):507-11. Epub 2010 Apr 29 doi: 10.1007/s10545-010-9080-z. [Epub ahead of print] PMID: 20429031Free PMC Article
Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M
Hum Genet 2010 Jun;127(6):619-28. Epub 2010 Apr 8 doi: 10.1007/s00439-010-0822-7. [Epub ahead of print] PMID: 20376488

Therapy

Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS
Mol Genet Metab 2013 Sep-Oct;110(1-2):111-5. Epub 2013 Apr 15 doi: 10.1016/j.ymgme.2013.03.021. [Epub ahead of print] PMID: 23712021
van Maldegem BT, Duran M, Wanders RJ, Waterham HR, Wijburg FA
Pediatr Res 2010 Mar;67(3):304-8. doi: 10.1203/PDR.0b013e3181cbd57b. PMID: 19952864
Turpin B, Tobias JD
Paediatr Anaesth 2005 Sep;15(9):771-7. doi: 10.1111/j.1460-9592.2005.01507.x. PMID: 16101709

Prognosis

Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J, Witsch-Baumgartner M
Gene 2014 Oct 15;550(1):136-40. Epub 2014 Aug 8 doi: 10.1016/j.gene.2014.08.016. [Epub ahead of print] PMID: 25111118
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
Mol Genet Metab 2012 May;106(1):55-61. Epub 2012 Feb 9 doi: 10.1016/j.ymgme.2012.02.007. [Epub ahead of print] PMID: 22424739
Pena L, Angle B, Burton B, Charrow J
Genet Med 2012 Mar;14(3):342-7. Epub 2012 Jan 5 doi: 10.1038/gim.2011.9. [Epub ahead of print] PMID: 22241096
van Maldegem BT, Kloosterman SF, Janssen WJ, Augustijn PB, van der Lee JH, Ijlst L, Waterham HR, Duran R, Wanders RJ, Wijburg FA
Neuropediatrics 2011 Feb;42(1):13-7. Epub 2011 Apr 15 doi: 10.1055/s-0031-1275342. [Epub ahead of print] PMID: 21500142
Ribes A, Riudor E, Garavaglia B, Martinez G, Arranz A, Invernizzi F, Briones P, Lamantea E, Sentís M, Barceló A, Roig M
Eur J Pediatr 1998 Apr;157(4):317-20. PMID: 9578969

Clinical prediction guides

Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J, Witsch-Baumgartner M
Gene 2014 Oct 15;550(1):136-40. Epub 2014 Aug 8 doi: 10.1016/j.gene.2014.08.016. [Epub ahead of print] PMID: 25111118
Ryckman KK, Smith CJ, Jelliffe-Pawlowski LL, Momany AM, Berberich SL, Murray JC
Hum Genet 2014 Aug;133(8):1049-57. Epub 2014 May 22 doi: 10.1007/s00439-014-1450-4. [Epub ahead of print] PMID: 24850141Free PMC Article
van Maldegem BT, Wanders RJ, Wijburg FA
J Inherit Metab Dis 2010 Oct;33(5):507-11. Epub 2010 Apr 29 doi: 10.1007/s10545-010-9080-z. [Epub ahead of print] PMID: 20429031Free PMC Article
Lindner M, Hoffmann GF, Matern D
J Inherit Metab Dis 2010 Oct;33(5):521-6. Epub 2010 Apr 7 doi: 10.1007/s10545-010-9076-8. [Epub ahead of print] PMID: 20373143
Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N
Pediatr Res 2001 Jan;49(1):18-23. doi: 10.1203/00006450-200101000-00008. PMID: 11134486

Recent systematic reviews

Lindner M, Hoffmann GF, Matern D
J Inherit Metab Dis 2010 Oct;33(5):521-6. Epub 2010 Apr 7 doi: 10.1007/s10545-010-9076-8. [Epub ahead of print] PMID: 20373143

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