ACAD9
- Known as:
- ACAD9
- Catalog number:
- 000975A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ACAD9
Related genes to: ACAD9
- Gene:
- ACAD9 NIH gene
- Name:
- acyl-CoA dehydrogenase family member 9
- Previous symbol:
- -
- Synonyms:
- NPD002, MGC14452
- Chromosome:
- 3q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-18
- Date modifiied:
- 2015-11-18
Related products to: ACAD9
Related articles to: ACAD9
- Severe hypertrophic cardiomyopathy presenting in infancy occurs at an estimated frequency of 1:47,000 neonates and is characterized by rapid progression and poor prognosis. Differential diagnosis and timely identification of potentially treatable conditions amenable to genotype-specific therapeutic approaches are of critical importance; however, this is not always achievable in a timely manner. ACAD9 deficiency is a rare autosomal recessive disorder of mitochondrial complex I assembly and fatty acid ß-oxidation, typically presenting in early infancy with progressive cardiac hypertrophy and lactic acidosis. Differential diagnosis might be challenging due to phenotypic overlap with sarcomeric and other metabolic cardiomyopathies and limited availability of rapid diagnostic approaches. - Source: PubMed
Publication date: 2026/07/20
Kotlukova NataliaKadykova AnastasyaGorelova TaisiaDzik LanaIslanov IgorZaklyazminskaya Elena - Complex I (CI) deficiency, the most common biochemical defect in pediatric mitochondrial diseases, presents with diverse phenotypes, including cardiomyopathy, myopathy, Leigh syndrome, and mitochondrial leukoencephalopathy (ML). No curative therapies exist. Riboflavin, a precursor of CI cofactors FMN and FAD, is a potential treatment, but evidence is heterogeneous and formal guidelines are lacking. - Source: PubMed
Publication date: 2026/07/13
Ferrera GiuliaInvernizzi FedericaSpagnolo ManuelaLamantea EleonoraMoroni IsabellaArdissone Anna - - Source: PubMed
Wang QJi Z MYang FChen J LYin JYang S W - A 27-year-old male with perinatal hypoxia presented with global developmental delay, progressive hearing loss, ataxia, dysarthria, and intellectual disability. Whole-exome sequencing revealed compound heterozygous ACAD9 variants: c.456del (p.Ile153Serfs*46) and c.869G > A (p.Gly290Glu). Brain MRI showed bilateral cerebellar atrophy and a prominent cisterna magna. OCT confirmed optic atrophy. The diagnosis of mitochondrial encephalomyopathy (complex I deficiency type 20) was established. This report expands the known genetic spectrum associated with mitochondrial encephalomyopathy and underscores the critical role of genomic sequencing in diagnosing atypical, slowly progressive multisystem disorders. - Source: PubMed
Publication date: 2026/06/11
Li ShuoLi YijunChen Yonghua - Riboflavin (RF, vitamin B2) is an essential vitamin of which the co-factors are critical to numerous cellular processes. RF is used as a treatment for inherited metabolic diseases (IMDs), although its effectiveness in many disorders has not been established. We aim to summarize all available data on the efficacy and safety of RF in the management of IMDs. A systematic literature search was conducted for articles reporting the effectiveness of RF in IMDs. RF therapy was considered "effective" in an IMD if more than 75% of patients showed a positive response, "uncertain" in case of a positive response in fewer than 75% of patients, and "not effective" if patients deteriorated or died following RF therapy. RF therapy was reported in 381 articles addressing 33 separate IMDs. A positive effect was established in MADD type 3 (n=536, 93.1% responsive), RTD 2,3 (n = 94, 90.4% responsive), ACAD 9 (n = 29, 75.9% responsive), and FAD transporter deficiency (n = 5, 100% responsive). The effect was uncertain in complex I and II deficiency, ethylmalonic encephalopathy, FAD synthase deficiency, glutaric aciduria type 1, L2 hydroxyglutaric aciduria, and MADD type 2. RF was not effective in MADD type 1. Adverse effects were infrequent and mild. RF therapy in MADD type 3, RTD 2 and 3, ACAD9, and FAD transporter deficiency is safe and effective. Access to RF for these patients is crucial. For a substantial group of IMDs, the effect of RF remains uncertain. In these conditions, a trial of RF therapy with clearly defined outcome criteria might be considered. - Source: PubMed
Jaeger BregjeStolwijk Nina NAaldering FemkeRuys Charlotte ASmits MarijeWolf Nicole IHollak Carla E MBosch Annet M