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Last update 08 May 2025

Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of

Last update 08 May 2025

Basic Info

Synonyms

ACAD9 (acyl-CoA dehydrogenase 9) deficiency, ACAD9 DEFICIENCY, ACAD9 deficiency

+ [10]

Introduction

A rare disorder leading to a deficiency of complex I of the respiratory chain with characteristics of neurological dysfunction, hepatic failure and cardiomyopathy. Caused by a mutation in the ACAD9 gene (3q21.3) that encodes the protein ACAD9. This protein has only relatively recently been described but is quite widely expressed in tissues and has activity as an acyl-CoA dehydrogenase with overlapping substrate specificity with very long-chain acyl-CoA dehydrogenase (VLCAD). It also acts an assembly factor for complex I of the respiratory chain and therefore has a vital role in the production of a functioning mitochondrial respiratory chain. The mode of inheritance is autosomal recessive.

Clinical Trials associated with Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of

NCT01461304

/ No longer availableNot ApplicableIIT

Dietary Therapy for Inherited Disorders of Energy Metabolism

This is a compassionate use study to allow patients already taking triheptanoin (C7) through previous studies to continue to receive the supplement. It will also allow triheptanoin supplementation in patients with qualifying disorders if they are failing conventional therapy.

Start Date-

Sponsor / Collaborator

University of Pittsburgh

[+1]

NCT05687474

/ RecruitingNot ApplicableIIT

Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life.
Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

Start Date01 Sep 2022

Sponsor / Collaborator

Centre Hospitalier Universitaire de Liege

[+5]

100 Clinical Results associated with Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of

100 Translational Medicine associated with Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of

0 Patents (Medical) associated with Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of

Literatures (Medical) associated with Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of

01 Jul 2025·Phytomedicine

HDCA alleviates Parkinson's disease symptoms by promoting autophagic degradation of α-synuclein in enteric neurons

Article

Author: Zhang, Jin-Bao ; Miao, Xu ; Yao, Rui-Qin ; Kong, Ren-Yu ; Ren, Chao ; Pan, Mei-Hua ; Yin, Xin ; Yao, Xiao-Yu

INTRODUCTIONBile acids (BAs) are emerging as key modulators of Parkinson's disease (PD) through gut-brain interactions, yet their therapeutic potential remains underutilized. While BA imbalances contribute to PD pathogenesis, the specific subspecies regulating α-synuclein (α-syn) homeostasis and their mechanisms in enteric neurons-critical sites for PD initiation-require systematic investigation.OBJECTIVETo investigate whether hyodeoxycholic acid (HDCA), a secondary BA with documented neuroprotective properties but unproven efficacy in synucleinopathy, modulates α-syn clearance through enteric neuronal autophagy to mitigate PD progression.METHODSA53T transgenic mice underwent behavioral assessments for PD phenotyping. State-of-the-art UPLC/MS-based metabolomics quantified BA profiles. Pharmacological interventions using target-specific inhibitors (Gly-MCA, T0070907, VER-155,008) dissected the FXR-PPARγ-HSPA8 pathway. Multiscale analyses spanning immunofluorescence, western blotting, and LC3B autophagy flux reporter assays elucidated α-syn aggregation and autophagic dynamics in primary enteric neurons.RESULTSHDCA decline correlated with PD severity, positioning it as a novel biomarker for gut-brain axis dysfunction in PD. HDCA supplementation not only alleviated motor/non-motor deficits but also conferred dual neuroprotection-reducing colonic α-syn oligomers and preserving nigral dopaminergic neurons. Mechanistic decoding revealed HDCA's unparalleled capacity to activate enteric neuronal autophagy via FXR-PPARγ-HSPA8 signaling, a pathway previously unrecognized in PD therapeutics.CONCLUSIONOur study reveals a novel gut-brain axis where HDCA depletion drives PD pathogenesis via FXR-PPARγ-HSPA8-mediated autophagic dysfunction in enteric neurons. PD-associated HDCA deficiency directly impairs α-syn clearance, identifying HDCA as both a gut-derived synucleinopathy biomarker and a therapeutic target.

01 Apr 2024·Endocrine, Metabolic & Immune Disorders - Drug Targets

Novel CARMIL2 (RLTPR) Mutation Presenting with Hyper-IgE and Eosinophilia: A Case Report

Author: Shahkarami, Sepideh ; Boztug, Kaan ; Rezaei, Nima ; Jimenez Heredia, Raúl ; Zamani, Raha ; Seyedpour, Simin ; Zoghi, Samaneh

Background:Inborn errors of immunity are a growing group of disorders with a wide spectrum of genotypic and phenotypic profiles. CARMIL2 (previously named RLTPR) deficiency is a recently described cause of immune dysregulation, mainly presenting with allergy, mucocutaneous infections, and inflammatory bowel disease. CARMIL2 deficiency is categorized under diseases of immune dysregulation with susceptibility to lymphoproliferative conditions.Case Presentation:Here we describe a 29-years-old male from a consanguineous family, with food and sting allergy, allergic rhinitis, facial molluscum contagiosum (viral infection of the skin in the form of umbilicated papules), eosinophilia and highly elevated serum IgE level. Whole exome sequencing revealed numerous homozygous variants, including a CARMIL2 nonsense mutation, a gene regulating actin polymerization, and promoting cell protrusion formation.Conclusion:The selective role of CARMIL2 in T cell activation and maturation through cytoskeletal organization is proposed to be the cause of immune dysregulation in individuals with CARMIL2 deficiency. CARMIL2 has an important role in immune pathways regulation, through cell maturation and differentiation, giving rise to a balance between Th1, Th2, and Th17 immune response. This case can improve the understanding of the different impacts of CARMIL2 mutations on immune pathways and further guide the diagnosis of patients with similar phenotypes.

22 May 2023·International journal of molecular sciences

Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.

Article

Author: Simonelli, Vincenzo ; Perna, Alessia ; Nigro, Vincenzo ; Limongelli, Giuseppe ; Monda, Emanuele ; Pota, Vincenzo ; Russo, Maria Giovanna ; Frisso, Giulia ; Lioncino, Michele ; Bruno, Giorgia ; Santorelli, Filippo Maria ; Rubino, Marta ; Mauriello, Alfredo ; Nesti, Claudia ; Budillon, Alberta ; Caiazza, Martina ; Varone, Antonio ; Pacileo, Giuseppe ; Sampaolo, Simone

Cardiomyopathies are mostly determined by genetic mutations affecting either cardiac muscle cell structure or function. Nevertheless, cardiomyopathies may also be part of complex clinical phenotypes in the spectrum of neuromuscular (NMD) or mitochondrial diseases (MD). The aim of this study is to describe the clinical, molecular, and histological characteristics of a consecutive cohort of patients with cardiomyopathy associated with NMDs or MDs referred to a tertiary cardiomyopathy clinic. Consecutive patients with a definitive diagnosis of NMDs and MDs presenting with a cardiomyopathy phenotype were described. Seven patients were identified: two patients with ACAD9 deficiency (Patient 1 carried the c.1240C>T (p.Arg414Cys) homozygous variant in ACAD9; Patient 2 carried the c.1240C>T (p.Arg414Cys) and the c.1646G>A (p.Ar549Gln) variants in ACAD9); two patients with MYH7-related myopathy (Patient 3 carried the c.1325G>A (p.Arg442His) variant in MYH7; Patient 4 carried the c.1357C>T (p.Arg453Cys) variant in MYH7); one patient with desminopathy (Patient 5 carried the c.46C>T (p.Arg16Cys) variant in DES); two patients with mitochondrial myopathy (Patient 6 carried the m.3243A>G variant in MT-TL1; Patient 7 carried the c.253G>A (p.Gly85Arg) and the c.1055C>T (p.Thr352Met) variants in MTO1). All patients underwent a comprehensive cardiovascular and neuromuscular evaluation, including muscle biopsy and genetic testing. This study described the clinical phenotype of rare NMDs and MDs presenting as cardiomyopathies. A multidisciplinary evaluation, combined with genetic testing, plays a main role in the diagnosis of these rare diseases, and provides information about clinical expectations, and guides management.

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