Autism in patients with propionic acidemia

Peter Witters, Eric Debbold, Kea Crivelly, Kristel Vande Kerckhove, Karen Corthouts, Brett Debbold, Hans Andersson, Lena Vannieuwenborg, Sam Geuens, Matthias Baumgartner, Tamas Kozicz, Lisa Settles, Eva Morava-Kozicz

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

Certain inborn errors of metabolism have been suggested to increase the risk of autistic behavior. In an animal model, propionic acid ingestion triggered abnormal behavior resembling autism. So far only a few cases were reported with propionic acidemia and autistic features. From a series of twelve consecutively diagnosed cases with propionic acidemia, we report on eight patients with autistic features. The patients were followed 2–4 times a year and underwent regular clinical, dietary and laboratory investigations. Psychological evaluation was performed every second to fourth year. All patients were compliant with the standard diet and carnitine supplementation. None of the patients had frequent metabolic decompensations. From the metabolic factors known to impact neuropsychological outcome we detected chronically decreased valine levels and altered valine to leucine ratios in five out of the eight patients. Recurrent lactic acid elevations were present in six out of the eight patients. Five of the eight patients were diagnosed with Autism Spectrum Disorder, four of them had pathogenic variants in PCCB. Disorder according to DSM-IV and/or DSM-5 criteria. One of the patients diagnosed with propionic acidemia by newborn screening had the most significant behavioral features and another was diagnosed with Autism Spectrum Disorder prior to propionic acidemia. We hypothesize that chronic suboptimal intracellular metabolic balance may be responsible for the increased risk for autistic features in propionic acidemia. We propose that patients diagnosed with propionic acidemia should be screened for Autism Spectrum Disorder.

Original languageEnglish (US)
Pages (from-to)317-321
Number of pages5
JournalMolecular Genetics and Metabolism
Volume119
Issue number4
DOIs
StatePublished - Dec 1 2016
Externally publishedYes

Fingerprint

Propionic Acidemia
Valine
Autistic Disorder
Carnitine
Nutrition
Metabolism
Leucine
Lactic Acid
Screening
Animals
Inborn Errors Metabolism
Risk-Taking
Diagnostic and Statistical Manual of Mental Disorders
Animal Models
Eating
Newborn Infant

Keywords

  • ASD
  • Autistic
  • Dietary therapy
  • Intellectual disability
  • Lactic acid
  • Leucine
  • Mitochondria
  • Propionic acid
  • Valine

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Witters, P., Debbold, E., Crivelly, K., Vande Kerckhove, K., Corthouts, K., Debbold, B., ... Morava-Kozicz, E. (2016). Autism in patients with propionic acidemia. Molecular Genetics and Metabolism, 119(4), 317-321. https://doi.org/10.1016/j.ymgme.2016.10.009

Autism in patients with propionic acidemia. / Witters, Peter; Debbold, Eric; Crivelly, Kea; Vande Kerckhove, Kristel; Corthouts, Karen; Debbold, Brett; Andersson, Hans; Vannieuwenborg, Lena; Geuens, Sam; Baumgartner, Matthias; Kozicz, Tamas; Settles, Lisa; Morava-Kozicz, Eva.

In: Molecular Genetics and Metabolism, Vol. 119, No. 4, 01.12.2016, p. 317-321.

Research output: Contribution to journalArticle

Witters, P, Debbold, E, Crivelly, K, Vande Kerckhove, K, Corthouts, K, Debbold, B, Andersson, H, Vannieuwenborg, L, Geuens, S, Baumgartner, M, Kozicz, T, Settles, L & Morava-Kozicz, E 2016, 'Autism in patients with propionic acidemia', Molecular Genetics and Metabolism, vol. 119, no. 4, pp. 317-321. https://doi.org/10.1016/j.ymgme.2016.10.009
Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B et al. Autism in patients with propionic acidemia. Molecular Genetics and Metabolism. 2016 Dec 1;119(4):317-321. https://doi.org/10.1016/j.ymgme.2016.10.009
Witters, Peter ; Debbold, Eric ; Crivelly, Kea ; Vande Kerckhove, Kristel ; Corthouts, Karen ; Debbold, Brett ; Andersson, Hans ; Vannieuwenborg, Lena ; Geuens, Sam ; Baumgartner, Matthias ; Kozicz, Tamas ; Settles, Lisa ; Morava-Kozicz, Eva. / Autism in patients with propionic acidemia. In: Molecular Genetics and Metabolism. 2016 ; Vol. 119, No. 4. pp. 317-321.
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