Rhabdomyolysis and Metabolic Myopathy
Gene: ACAD9
PMID: 30025539 - 70 reported patients with ACAD9 deficiency. 62% of patients present at <1 year old and 86% before 10 years old. The most common clinical findings were cardiomyopathy (85%), muscular weakness (75%) and exercise intolerance (72%). Severe intellectual deficits were only reported in one patient and severe developmental delays in four patients. More than 70% of the patients were able to perform the same activities of daily living when compared to peers.Created: 7 Nov 2020, 4:28 a.m. | Last Modified: 7 Nov 2020, 4:28 a.m.
Panel Version: 0.5335
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Publications
Rhabdomyolysis can be a prominent feature of the condition.
Sources: Expert listCreated: 12 Feb 2020, 2:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Publications
Tag treatable tag was added to gene: ACAD9.
Gene: acad9 has been classified as Green List (High Evidence).
Publications for gene: ACAD9 were set to
gene: ACAD9 was added gene: ACAD9 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency 611126