Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jan 2024

Wang Shuting, Diao Chengming, Leng Junhong

Abstract excerpt

The cases were a pair of siblings with a carnitine palmitoyltransferase (CPT2) deficiency detected by tandem mass spectrometry. Their C16 and C18:1 levels were both within the normal range, while C0 was low, and the (C16+C18:1)/C2 ratio was high. Following genetic testing, a novel CPT2 gene mutation was identified in both patients. The male patient had a normal growth rate during 5 years of follow-up after...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carnitine
Share to Carnitine O-Palmitoyltransferase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Infant

Share to Metabolism, Inborn Errors

Share to Mutation

Source

Identifiers

PMID: 38168614
DOI: 10.1016/j.arcped.2023.09.010

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report.PMID 38168614Read ↗

Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.Semantic proximity Read ↗

Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China：A case report and literature reviewSemantic proximity Read ↗

Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report.Semantic proximity Read ↗

Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency.Semantic proximity Read ↗

Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.Semantic proximity Read ↗

[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].Semantic proximity Read ↗

Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.Semantic proximity Read ↗

Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.Semantic proximity Read ↗

Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) DeficiencySemantic proximity Read ↗

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.Semantic proximity Read ↗

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.Semantic proximity Read ↗

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.