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

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.

American journal of medical genetics. Part A - 1 Feb 2025

Al-Amrani Fatema, Ruiter Jos P N, Doolaard Mirjam, Kumar Alok, Ferdinandusse Sacha, Al-Thihli Khalid

Abstract excerpt

Mitochondrial trifunctional protein (MTP) deficiency is a fatty acid oxidation disorder associated with a spectrum of phenotypes. Patients with high residual enzyme activity tend to have milder phenotypes, and recently, fever-induced episodic myopathy was reported in association with a thermosensitive form of MTP deficiency. We report a 10-year-old male with recurrent episodes of acute flaccid paralysis involving...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Homozygote

Share to Lipid Metabolism, Inborn Errors

Share to Mitochondrial Myopathies

Share to Nervous System Diseases

Share to Rhabdomyolysis

Source

Identifiers

PMID: 39360520
DOI: 10.1002/ajmg.a.63900

Genes

HADHA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.PMID 39360520Read ↗

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

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

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations.Semantic proximity Read ↗

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

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatmentSemantic proximity Read ↗

Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.Semantic proximity Read ↗

Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.Semantic proximity Read ↗

MTP deficiency caused by HADHB mutations: Pathophysiology and clinical manifestations.Semantic proximity Read ↗

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein.Semantic proximity Read ↗

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.Semantic proximity Read ↗

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.Semantic proximity Read ↗

Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants.Semantic proximity Read ↗

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