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

Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.

Annals of neurology - 1 Oct 1996

Schaefer J, Jackson S, Dick D J, Turnbull D M

Abstract excerpt

Disorders of mitochondrial fatty acid oxidation are a common cause of exercise-induced rhabdomyolysis and myoglobinuria. We report three adult patients from a family with symptoms of recurrent exercise-induced rhabdomyolysis. This presentation closely resembles adult-type carnitine palmitoyltransferase II deficiency except that these patients had an associated peripheral neuropathy. Investigation of fatty acid...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Fatty Acids
Share to Immunoblotting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondria, Muscle

Share to Oxidation-Reduction

Share to Pedigree

Share to Phenotype

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 8871579
DOI: 10.1002/ana.410400409

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

Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.PMID 8871579Read ↗

Late Diagnosis of Adult-Onset Carnitine Palmitoyltransferase II Deficiency in a 63-Year-Old Man Presenting with Recurrent Rhabdomyolysis: A Case ReportSemantic proximity Read ↗

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.Semantic proximity Read ↗

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

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.Semantic proximity Read ↗

Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene.Semantic proximity Read ↗

[Myoglobinuria and carnitine palmitoyltransferase deficiency. Diagnostic procedure and differential diagnosis].Semantic proximity Read ↗

Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male: A case report.Semantic proximity Read ↗

[Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy].Semantic proximity Read ↗

Carnitine palmitoyltransferase deficiencies.Semantic proximity Read ↗

Carnitine palmityl transferase I deficiency.Semantic proximity Read ↗

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.Semantic proximity Read ↗

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