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

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Journal of child neurology - 1 Feb 2026

Balletto Giulia, Barbagallo Giulia, Cataldi Matteo, Germano Francesco, Traverso Monica, Leuzzi Deborah, Martinez Popple Marina, Geroldi Alessandro, Gotta Fabio, Bellone Emilia, Scala Marcello, Zara Federico, Nobili Lino, Fiorillo Chiara

Abstract excerpt

Pathogenic variants in the HADHA and HADHB genes are associated with impairment of mitochondrial trifunctional protein. Mitochondrial trifunctional protein deficiency is a disorder of long-chain fatty acid oxidation with different clinical presentations: the neonatal-onset form expressing with severe cardiac phenotype, the infantile-onset form with intermediate hepatic phenotype with metabolic crises, and the...

Read the complete abstract on PubMed

Topics

Humans
Lipid Metabolism, Inborn Errors
Mitochondrial Trifunctional Protein
Mitochondrial Trifunctional Protein, alpha Subunit

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

Mutation

Polyneuropathies

Cardiomyopathies

Nervous System Diseases

Rhabdomyolysis

Mitochondrial Myopathies

Source

Identifiers

PMID: 40820380
DOI: 10.1177/08830738251356850

Genes

HADHA
HADHB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 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

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.PMID 40820380Read ↗

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

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

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.Semantic proximity Read ↗

HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases.Semantic proximity Read ↗

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

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

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

Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.Semantic proximity Read ↗

Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature.Semantic proximity Read ↗

The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement.Semantic proximity Read ↗

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

Sensory neuronopathy as a major clinical feature of mitochondrial trifunctional protein deficiency in adults.Semantic proximity Read ↗

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