Trial reportMolecular genetics and metabolism2011
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
Trial report in Molecular genetics and metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00653666 (Metabolic Consequences of CPT1A Deficiency in Alaska Native Children), which is not on this map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Metabolic Consequences of CPT1A Deficiency in Alaska Native Children
Who cites it
18 citing papers in PubMed, 35 citations in OpenAlex.
- Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.PloS one · 2015Trial
- Methylation at CPT1A locus is associated with lipoprotein subfraction profiles.Journal of lipid research · 2014Trial
- Common variants in the CPT1A gene are associated with cataracts in Northern breeds of domestic dog.PloS one · 2025Article
- A mild phenotype associated withFrontiers in pediatrics · 2024Article
- The CPT1A Arctic variant: perspectives of community members and providers in two Alaska tribal health settings.Journal of community genetics · 2023Article
- A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.Human mutation · 2023Article
- Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.JIMD reports · 2022Article
- Neonatal hypoglycemia and the CPT1A P479L variant in term newborns: A retrospective cohort study of Inuit newborns from Kivalliq Nunavut.Paediatrics & child health · 2021Article
- Mitochondrial Lipid Signaling and Adaptive Thermogenesis.Metabolites · 2021Review
- Association of theFrontiers in pediatrics · 2021Article
- Genetic variants for personalised management of very low carbohydrate ketogenic diets.BMJ nutrition, prevention & health · 2020Review
- Fatty acid oxidation disorders.Annals of translational medicine · 2018Review
- Response to Koeller et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Health effects of the CPT1A P479L variant: responsible public health policy.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.Journal of inherited metabolic disease · 2013Review
- Assessing Environmental, Nutritional, and Genetic Factors for Otitis Media-Related Hearing Loss in Rural Alaska Native Children.Ear and hearingArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
A high prevalence of the sequence variant c.1436C→T in the CPT1A gene has been identified among Alaska Native newborns but the clinical implications of this variant are unknown. We conducted medically supervised fasts in 5 children homozygous for the c.1436C→T variant. Plasma free fatty acids increased normally in these children but their long-chain acylcarnitine and ketone production was significantly blunted. The fast was terminated early in two subjects due to symptoms of hypoglycemia. Homozygosity for the c.1436C→T sequence variant of CPT1A impairs fasting ketogenesis, and can cause hypoketotic hypoglycemia in young children. Trial registration www.clinical trials.gov NCT00653666 "Metabolic Consequences of CPT1A Deficiency"
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.