ArticleBrain sciences2019
First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder.
Article in Brain sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.Journal of cellular and molecular medicine · 2026Pooled it
- Advances in the Treatment of Autism Spectrum Disorder: Current and Promising Strategies.Current medicinal chemistry · 2024Review
- A Review on the Role of Genetic Mutations in the Autism Spectrum Disorder.Molecular neurobiology · 2023Review
- A report of a pedigree with compound heterozygous mutations in theFrontiers in pediatrics · 2023Article
- Metabolomic biomarkers in autism: identification of complex dysregulations of cellular bioenergetics.Frontiers in psychiatry · 2023Article
- Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.Disease markers · 2022Article
- Ratings of the Effectiveness of Nutraceuticals for Autism Spectrum Disorders: Results of a National Survey.Journal of personalized medicine · 2021Article
- Potential Role of L-Carnitine in Autism Spectrum Disorder.Journal of clinical medicine · 2021Review
- Emerging biomarkers in autism spectrum disorder: a systematic review.Annals of translational medicine · 2019Review
- Effects of l-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies.Molecules (Basel, Switzerland) · 2019Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Systemic primary carnitine deficiency (PCD) is a genetic disorder caused by decreased or absent organic cation transporter type 2 (OCTN2) carnitine transporter activity, resulting in low serum carnitine levels and decreased carnitine accumulation inside cells. In early life, PCD is usually diagnosed as a metabolic decompensation, presenting as hypoketotic hypoglycemia, Reye syndrome, or sudden infant death; in childhood, PCD presents with skeletal or cardiac myopathy. However, the clinical presentation of PCD characterized by autism spectrum disorder (ASD) with intellectual disability (ID) has seldom been reported in the literature. In this report, we describe the clinical features of a seven-year-old girl diagnosed with PCD who presented atypical features of the disease, including a developmental delay involving language skills, concentration, and attention span, as well as autistic features and brain alterations apparent in magnetic resonance imaging. We aim to highlight the difficulties related to the diagnostic and therapeutic approaches used to diagnose such patients. The case reported here presented typical signs of PCD, including frequent episodes of hypoglycemia, generalized muscle weakness, decreased muscle mass, and physical growth deficits. A molecular genetic study confirmed the definitive diagnosis of the disease (c.1345T>G (p.Y449D)) in gene
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