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Article

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I

by
Zinandré Stander
1,
Amy L. White
1,
Matthew Lynch
2,
David Coman
3,
Justin Rosati
4,
Diana Bailey
4,
Jessica Johnson
4,
Bo Hoon Lee
4,
ChinTo Fong
4,
Joseph Orsini
5,
Matthew J. Schultz
1,
Devin Oglesbee
1,
Dimitar Gavrilov
1,
Dietrich Matern
1,
Patricia L. Hall
1 and
Silvia Tortorelli
1,*
1
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
2
Queensland Lifespan Metabolic Medicine Service, Queensland Children’s Hospital, Brisbane, QLD 4101, Australia
3
School of Medicine, University of Queensland, Brisbane, QLD 4072, Australia
4
Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA
5
New York State Department of Health, Albany, NY 12208, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2026, 12(2), 25; https://doi.org/10.3390/ijns12020025
Submission received: 23 January 2026 / Accepted: 25 February 2026 / Published: 17 April 2026
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Abstract

COASY-related disorders (CRDs) are a spectrum of autosomal recessive conditions caused by the dysfunction of CoA synthase, an enzyme responsible for the final steps of CoA synthesis. Clinical manifestations of CRDs are highly variable, ranging from perinatal lethal pontocerebellar hypoplasia to childhood-onset neurodegenerative brain iron accumulation, which is often recognized after clinical regression. Recent reports have described a few individuals with CRD who screened positive for carnitine palmitoyltransferase-I deficiency by newborn screening (NBS). However, heterogeneous clinical presentations, conflicting biochemical/molecular sequencing of CPT1A, and a lack of metabolic characterization have led to lengthy, costly diagnostic journeys. To address some of these aspects, this investigation retrospectively evaluated NBS acylcarnitine patterns in five CRD cases using Collaborative Laboratory Integrated Reports (CLIR). A total of 25 metabolites/ratios were identified to deviate significantly from reference ranges and were primarily composed of elevated free carnitine and reduced long-chain acylcarnitine levels. While low acylcarnitine concentrations are often not reported due to a lack of lower reference cutoffs, ratios involving these metabolites relative to short-chain acylcarnitines could aid in identifying CRD cases via NBS. When comparing this pattern to CPT-Ia cases, we confirmed a nearly identical acylcarnitine pattern between these, and thus support the need to consider CRD in cases with NBS results suggestive of CPT-Ia. This study is the first case series to characterize NBS patterns in patients with CRD and highlights the unique opportunity for early detection, particularly in cases that are neonatally asymptomatic and have unremarkable confirmatory biochemical results.
Keywords: COASY-related disorders; pontocerebellar hypoplasia type 12; COASY protein-associated neurodegeneration with brain accumulation; newborn screening; carnitine palmitoyltransferase I deficiency; co-enzyme A synthase COASY-related disorders; pontocerebellar hypoplasia type 12; COASY protein-associated neurodegeneration with brain accumulation; newborn screening; carnitine palmitoyltransferase I deficiency; co-enzyme A synthase

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MDPI and ACS Style

Stander, Z.; White, A.L.; Lynch, M.; Coman, D.; Rosati, J.; Bailey, D.; Johnson, J.; Lee, B.H.; Fong, C.; Orsini, J.; et al. COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I. Int. J. Neonatal Screen. 2026, 12, 25. https://doi.org/10.3390/ijns12020025

AMA Style

Stander Z, White AL, Lynch M, Coman D, Rosati J, Bailey D, Johnson J, Lee BH, Fong C, Orsini J, et al. COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I. International Journal of Neonatal Screening. 2026; 12(2):25. https://doi.org/10.3390/ijns12020025

Chicago/Turabian Style

Stander, Zinandré, Amy L. White, Matthew Lynch, David Coman, Justin Rosati, Diana Bailey, Jessica Johnson, Bo Hoon Lee, ChinTo Fong, Joseph Orsini, and et al. 2026. "COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I" International Journal of Neonatal Screening 12, no. 2: 25. https://doi.org/10.3390/ijns12020025

APA Style

Stander, Z., White, A. L., Lynch, M., Coman, D., Rosati, J., Bailey, D., Johnson, J., Lee, B. H., Fong, C., Orsini, J., Schultz, M. J., Oglesbee, D., Gavrilov, D., Matern, D., Hall, P. L., & Tortorelli, S. (2026). COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I. International Journal of Neonatal Screening, 12(2), 25. https://doi.org/10.3390/ijns12020025

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