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

Prospective treatment in carnitine-acylcarnitine translocase deficiency.

Journal of inherited metabolic disease - 1 Oct 2007

Pierre G, Macdonald A, Gray G, Hendriksz C, Preece M A, Chakrapani A

Abstract excerpt

Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder that results in long-chain fatty acids being unavailable for mitochondrial beta-oxidation and ketogenesis. It can present in the neonatal period or infancy with a severe clinical form, typically with convulsions, hypothermia...

Read the complete abstract on PubMed

Topics

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

Share to Carnitine
Share to Diet, Fat-Restricted
Share to Dietary Supplements

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatty Acids

Share to Hyperammonemia

Share to Hypoglycemia

Share to Metabolism, Inborn Errors

Share to Oxidation-Reduction

Source

Identifiers

PMID: 17508264
DOI: 10.1007/s10545-007-0518-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17508264-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prospective treatment in carnitine-acylcarnitine translocase deficiency.PMID 17508264Read ↗

Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.Semantic proximity Read ↗

Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.Semantic proximity Read ↗

Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.Semantic proximity Read ↗

Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype.Semantic proximity Read ↗

Sudden death with cardiac involvement in a neonate with carnitine-acylcarnitine translocase deficiency.Semantic proximity Read ↗

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and managementSemantic proximity Read ↗

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.Semantic proximity Read ↗

Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family.Semantic proximity Read ↗

Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.Semantic proximity Read ↗

Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.Semantic proximity Read ↗

Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.Semantic proximity Read ↗

Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.Semantic proximity Read ↗

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