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Short-Chain Acyl-CoA Dehydrogenase Deficiency

Synonyms: SCADD, SCAD Deficiency

, MS, CRNP, BC, , MD, , PhD, and , MD, PhD.

Author Information and Affiliations

Initial Posting: ; Last Update: September 11, 2025.

Estimated reading time: 15 minutes

Summary

Clinical characteristics.

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a biochemical phenotype without clinical manifestations. Biochemical findings in individuals with SCADD include increased butyrylcarnitine (C4 acylcarnitine) concentration in plasma and/or increased ethylmalonic acid concentration in urine. As with other fatty acid oxidation deficiencies, characteristic biochemical findings of SCADD may be absent except during times of physiologic stress such as fasting and illness. SCADD is not predicted to cause clinical findings based on long-term evaluation of individuals following identification on newborn screening.

Diagnosis/testing.

The diagnosis of SCADD is established in an individual with characteristic increased butyrylcarnitine (C4 acylcarnitine) concentration in plasma and/or increased ethylmalonic acid concentration in urine under non-stressed conditions (on at least two occasions) and biallelic SCADD-related variants in ACADS identified by molecular genetic testing.

Management.

Treatment of manifestations: As SCADD is a biochemical phenotype without clinical manifestations, no treatment is recommended and there are no dietary or supplement recommendations.

Surveillance: No surveillance is recommended. Longitudinal follow up on a research basis, including annual visits to a metabolic clinic to assess growth, development, and nutritional status (protein and iron stores, concentration of red blood cell or plasma essential fatty acids, and plasma carnitine concentration), could be helpful to more clearly define unrecognized phenotypes as individuals age.

Genetic counseling.

SCADD is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a SCADD-related variant, each sib of an individual with SCADD has at conception a 25% chance of inheriting biallelic ACADS variants leading to the biochemical findings of SCADD, a 50% chance of inheriting one SCADD-related variant and being a carrier, and a 25% chance of inheriting neither of the familial SCADD-related variants. Because SCADD is not thought to be clinically significant, prenatal and preimplantation genetic testing for SCADD are considered medically unnecessary.

Diagnosis

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a biochemical phenotype without clinical manifestations.

Suggestive Findings

SCADD should be suspected in an infant with an out-of-range newborn screening (NBS) result OR in a proband with incidental laboratory findings identified in the process of evaluation for a possible inborn error of metabolism.

Infant with Out-of-Range NBS Result

NBS for SCADD is primarily based on the use of dried blood spots collected between 24 and 72 hours after birth to quantify C4 acylcarnitine concentration (butyrylcarnitine is elevated in SCADD) by tandem mass spectrometry. In the United States, most NBS laboratories determine their own cutoff levels for test results that are considered to be out of range. For information on NBS by state in the US, see www.newbornscreening.hrsa.gov/your-state.

On receipt of out-of-range NBS results (i.e., elevated C4 acylcarnitine), further evaluation to confirm a diagnosis should be pursued because out-of-range NBS results for C4 acylcarnitine concentration are not specific to SCADD. Note: Isobutyryl-CoA dehydrogenase deficiency (IBDD) leads to elevation of isobutyrylcarnitine, a C4 acylcarnitine species also detectable by NBS; IBDD must be distinguished from SCADD by additional laboratory testing. The American College of Medical Genetics and Genomics (ACMG) has published an online algorithm delineating the appropriate response to elevated C4 acylcarnitine on NBS (see ACMG ACT Sheet and ACMG Algorithm). Additional testing include:

  • A random urine sample to test urine acylglycines can differentiate butyrylglycine (elevated in SCADD) and isobutyrylglycine (elevated in IBDD).
  • Elevated urine ethylmalonic acid on urine organic acids is consistent with SCADD.

For more information on confirming the diagnosis, see Establishing the Diagnosis.

Proband with Incidental Laboratory Findings

Laboratory findings

  • Increased plasma C4 acylcarnitine concentration
  • Increased butyrylglycine and normal isobutyrylglycine on random urine sample of urine acylglycines
  • Elevated urine ethylmalonic acid

Family history is consistent with autosomal recessive inheritance (e.g., sibs with laboratory features of SCADD and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

The diagnosis of SCADD is established in a proband with increased butyrylcarnitine (C4 acylcarnitine) concentration in plasma and/or increased ethylmalonic acid concentration in urine under non-stressed conditions (on at least two occasions) AND identification of biallelic SCADD-related variants in ACADS by molecular genetic testing.

Note: (1) Two common (benign) ACADS variants (c.511C>T or c.625G>A) also lead to the biochemical phenotype and reduce enzymatic activity [van Maldegem et al 2006, Pedersen et al 2008, Gallant et al 2012]. Most infants with NBS results consistent with SCADD are either homozygous for a SCADD-related variant in ACADS or compound heterozygous for a SCADD-related variant and one of the two common (benign) ACADS variants [Lindner et al 2010]. (2) Infants homozygous for the c.625G>A common (benign) variant have laboratory findings that overlap with those of SCADD (i.e., individuals with biallelic SCADD-related variants).

Molecular genetic testing approaches can include a multigene panel or single gene testing.

  • A multigene panel that includes ACADS and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition while limiting identification of pathogenic variants and variants of uncertain significance in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
    For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
  • Single-gene testing. Sequence analysis of ACADS can be performed to detect missense, nonsense, and splice site variants and small intragenic deletions/insertions. However, multigene panels that include ACADS are frequently preferred over single-gene testing. Typically, if only one or no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications; however, to date such variants have not been identified as a cause of SCADD.

Table 1.

Molecular Genetic Testing Used in Short-Chain Acyl-CoA Dehydrogenase Deficiency

Gene 1MethodProportion of SCADD-Related Variants 2 Identified by Method
ACADS Sequence analysis 3~100% 4
Gene-targeted deletion/duplication analysis 5None reported 6

SCADD = short-chain acyl-CoA dehydrogenase deficiency

1.
2.

See Molecular Genetics for information on variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. Exome and genome sequencing may be able to detect deletions/duplications using breakpoint detection or read depth; however, sensitivity can be lower than gene-targeted deletion/duplication analysis.

6.

To date, no large intragenic deletions/duplications have been reported in individuals with SCADD.

Clinical Characteristics

Clinical Description

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a biochemical phenotype without clinical manifestations. Since infants with SCADD identified through newborn screening (NBS) programs have been well at the time of diagnosis, the reported relationship of clinical manifestations to SCADD is now considered to be coincidental [Waisbren et al 2008, Breilyn et al 2023].

The most convincing study on the clinical relevance of SCADD was reported on 76 infants out of 2,632,058 screened in California over a five-year period [Gallant et al 2012]. Clinical follow up was available on 31 infants, none of whom had any clinical findings suggesting a metabolic disorder. Seven of these infants with available molecular information were homozygous or compound heterozygous for SCADD-related variants, eight had one SCADD-related variant and one of the two common (benign) variants (c.511C>T or c.625G>A), and seven had biallelic common (benign) variants (c.511C>T or c.625G>A). In an additional study of 12 individuals with biochemical findings suggestive of SCADD, ten were identified before age three weeks; all were either asymptomatic or reported to have mild hypotonia [Tonin et al 2016].

Occasional publications demonstrating some cellular phenotype related to SCADD still appear in the literature [van Maldegem et al 2006, Jethva et al 2008, van Maldegem et al 2010, Gallant et al 2012, Tonin et al 2016, Nochi et al 2017]. All older reports on SCADD identified symptomatic individuals retrospectively; many of such reports did not differentiate between those with SCADD-related variants and those with the common (benign) variants c.511C>T or c.625G>A. Pedersen et al [2008] summarized the findings in 114 individuals, mostly children undergoing metabolic evaluation for developmental delay. Manifestations early in life that could be attributed to SCADD appear to resolve completely during long-term follow up for most individuals diagnosed with SCADD [Bok et al 2003, Pedersen et al 2008, Maguolo et al 2020].

As in other fatty acid oxidation disorders, characteristic biochemical findings of SCADD can be absent in affected individuals except during times of physiologic stress including fasting and illness.

Pregnancy-related issues. Acute fatty liver of pregnancy (AFLP), preeclampsia, and/or hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome in mothers of affected fetuses have been described, but causation has not been established [Matern et al 2001, Bok et al 2003, van Maldegem et al 2010].

Genotype-Phenotype Correlations

No consistent genotype-phenotype correlations have been observed. However, data have suggested a correlation between urinary levels of biomarkers (ethylmalonic acid and methylsuccinic acid) and presence of biallelic SCADD-related ACADS variants versus compound heterozygosity for one SCADD-related variant and one of the two common (benign) variants (c.511C>T or c.625G>A) [Gallant et al 2012].

Individuals with biallelic common (benign) variants (c.511C>T or c.625G>A) are highly prevalent in the general population such that these findings cannot represent a significant risk for clinical disease (see Molecular Genetics). Individuals compound heterozygous for a SCADD-related ACADS variant and a common (benign) variant have enzymatic dysfunction that falls between the those with biallelic common (benign) variants and those with biallelic inactivating variants. However, California NBS data have showed that these individuals remained clinically asymptomatic [Gallant et al 2012].

Prevalence

Using strict biochemical and molecular criteria, a birth prevalence of SCADD of at least 1:50,000 has been estimated in the Netherlands [van Maldegem et al 2006]. A prevalence of 1:34,632 or approximately 1:35,000 was calculated from California data for the estimated incidence in the United States [Gallant et al 2012].

Differential Diagnosis

Genetic disorders associated with increased butyrylcarnitine concentration (and/or other C4 acylcarnitines) in plasma and/or increased ethylmalonic acid (EMA) concentration in urine to consider in the differential diagnosis of short-chain acyl-CoA dehydrogenase deficiency (SCADD) include those listed in Table 2. Note: It is becoming increasingly apparent that elevation of C4 carnitine in blood with increased EMA in urine is frequently unrelated to SCADD.

Table 2.

Genes of Interest in the Differential Diagnosis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

GeneDisorderMOIComment
>350 genes 1 Primary mitochondrial disorders MT
AR
AD
XL
  • Pleiotropic disorders that may show mild ↑ of EMA in urine & C4 in blood
  • In practice, these disorders may be the most difficult to distinguish from SCADD, & in minimally symptomatic individuals w/o lactic acidemia, molecular testing may be necessary to establish a diagnosis.
ACAD8 Isobutyryl-CoA dehydrogenase deficiency (IBDD) (OMIM 611283)AR
  • IBDD, also detectable by NBS, leads to ↑ of isobutyrylcarnitine, a C4 species indistinguishable from butyrylcarntine w/o additional separation techniques.
  • IBDD presents w/relatively mild & nonspecific hypotonia & is most often asymptomatic at birth. Thus, IBDD is clinically identical to SCADD in newborns.
ETFA
ETFB
ETFDH 		Multiple acyl-CoA dehydrogenase deficiency (MADD)ARMADD can present w/↑ EMA in urine & C4 in blood but has distinguishing biochemical characteristics related to secondary deficiencies of all the fatty acyl-CoA dehydrogenases.
ETHE1 Ethylmalonic encephalopathy (EE)AR
  • EE presents w/↑ EMA in urine at much higher levels than in SCADD. C4 may be ↑, but as in MADD, other metabolites may be ↑ as well.
  • The clinical characteristics of orthostatic acrocyanosis, petechiae, & severe neurologic manifestations distinguish EE from SCADD.
FLAD1 FLAD1 deficiency 2AR
  • Metabolic myopathy w/lipid storage
  • Mitochondrial respiratory chain deficiency

AR = autosomal recessive; C4 = butyrylcarnitine; EMA = ethylmalonic acid; MOI = mode of inheritance; MT = mitochondrial; NBS = newborn screening; SCADD = short-chain acyl-CoA dehydrogenase deficiency

1.
2.

Maternal riboflavin deficiency can lead to an out-of-range newborn screening result consistent with multiple acyl-CoA dehydrogenase deficiency (MADD) in an infant with hypoglycemia and acidosis and metabolites consistent with MADD [Ho et al 2011].

Sertraline use (used in the treatment of depression) can lead to fatigue, metabolic acidosis, rhabdomyolysis, and metabolites consistent with MADD [Ingoglia et al 2024].

Jamaican vomiting sickness. This condition, characterized by acute hypoglycemia, is caused by eating the unripe ackee fruit, which contains an inhibitor of the acyl-CoA dehydrogenases. The effect is most pronounced for long-chain and medium-chain enzymes, and thus, while small amounts of short-chain organic acids may be seen in urine, the biochemical diagnosis is straightforward.

Management

No clinical practice guidelines for short-chain acyl CoA dehydrogenase deficiency (SCADD) have been published.

Evaluations Following Initial Diagnosis

Once a molecular diagnosis of SCADD deficiency is made, there is no need for additional clinical evaluation.

Treatment of Manifestations

Since SCADD is now viewed as a biochemical phenotype rather than a disease, there is no need for treatment.

Given the paucity of research, especially long-term follow-up studies, enrollment in a long-term follow-up study with a biochemical geneticist can be offered.

Surveillance

Longitudinal follow up of individuals with SCADD on a research basis, including annual visits to a metabolic clinic to assess growth, development, and nutritional status (protein and iron stores, concentration of red blood cell or plasma essential fatty acids, and plasma carnitine concentration), could be helpful to more clearly define unrecognized phenotypes as individuals age.

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members; it is not meant to address all personal, cultural, or ethical issues that may arise or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband. The parents of a child with SCADD are presumed to be heterozygous for a SCADD-related variant.

Sibs of a proband. If both parents are known to be heterozygous for a SCADD-related variant, each sib of an individual with SCADD has at conception a 25% chance of inheriting biallelic ACADS variants leading to the biochemical findings of SCADD, a 50% chance of inheriting one SCADD-related variant and being a carrier, and a 25% chance of inheriting neither of the familial SCADD-related variants.

Offspring of a proband. The offspring of an individual with SCADD are obligate heterozygotes (carriers) for a SCADD-related variant.

Other family members. Each sib of the proband's parents is at a 50% risk of being a carrier of a SCADD-related variant.

Carrier Detection

Carrier testing for at-risk relatives requires prior identification of the SCADD-related variants in the family.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk is before pregnancy.
  • It is appropriate to offer genetic counseling to young adults who have SCADD, are carriers, or are at risk of being carriers in order to alert them to the possibility of an out-of-range newborn screening result and of its lack of clinical relevance.

Prenatal Testing and Preimplantation Genetic Testing

Because SCADD is not thought to be clinically significant, prenatal and preimplantation genetic testing for SCADD are considered medically unnecessary.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
ACADS 12q24​.31 Short-chain specific acyl-CoA dehydrogenase, mitochondrial ACADS database ACADS ACADS

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Short-Chain Acyl-CoA Dehydrogenase Deficiency (View All in OMIM)

201470ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD
606885ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS

Molecular Pathogenesis

Short-chain-specific acyl-CoA dehydrogenase, mitochondrial (SCAD), like the other acyl-CoA dehydrogenases (ACAD), is a flavoprotein synthesized in the cytosol as a precursor protein. The precursor protein is transported to the mitochondria and further processed into a mature form via proteolytic cleavage of a mitochondrial targeting (transit) peptide at the amino terminus [Battaile et al 2002]. Nearly all individuals identified with SCAD deficiency (SCADD) described to date have missense variants that lead to protein misfolding, which has been postulated to cause pathologic cellular effects of SCADD [Schmidt et al 2010]. Although the loss of SCAD enzymatic activity clearly leads to the accumulation of abnormal organic acids, no specific clinical syndrome has been substantiated when unbiased populations are assessed. There have been conjectures due to in vitro cell experiments that SCADD could interact with other genetic susceptibilities and lead to an increased risk for neurologic disease. However, no clinical correlations to these in vitro studies have ever been identified.

Table 3.

ACADS Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment
NM_000017​.4
NP_000008​.1 		c.511C>Tp.Arg171TrpCommon (benign) variants (See Genotype-Phenotype Correlations.)
c.625G>Ap.Gly209Ser

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

Chapter Notes

Author Notes

Dr Jerry Vockley (ude.phc@yelkcov.drareg) is interested in hearing from clinicians treating families affected by fatty acid oxidation disorders in whom no causative variant has been identified through molecular genetic testing of the genes known to be involved in this group of disorders.

Acknowledgments

The authors thank the Fatty Acid Oxidation Disorder Family Support and MitoAction for their support of fatty acid oxidation studies and family support.

Revision History

  • 11 September 2025 (sw) Comprehensive update posted live
  • 9 August 2018 (ha) Comprehensive update posted live
  • 7 August 2014 (me) Comprehensive update posted live
  • 22 September 2011 (me) Review posted live
  • 21 March 2011 (lw) Original submission

References

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