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Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.
Zhao XJ, Mohsen AW, Mihalik S, Solo K, Basu S, Aliu E, Shi H, Kochersberger C, Karunanidhi A, Van't Land C, Coughlan KA, Siddiqui S, Rice LM, Hillier S, Guadagnin E, DeAntonis C, Giangrande PH, Martini PGV, Vockley J. Zhao XJ, et al. Hum Mol Genet. 2023 Jul 4;32(14):2347-2356. doi: 10.1093/hmg/ddad076. Hum Mol Genet. 2023. PMID: 37162351 Free PMC article.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-oxidation (FAO) in humans. ...Results from this study support the potential therapeutic value of hMCAD mRNA-LNP complex treatment for MCAD …
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid beta-o …
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
BACKGROUND: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. ...Voting by 18 workshop participants led to …
BACKGROUND: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylke …
Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.
Karunanidhi A, Basu S, Zhao XJ, D'Annibale O, Van't Land C, Vockley J, Mohsen AW. Karunanidhi A, et al. Mol Genet Metab. 2023 Nov;140(3):107689. doi: 10.1016/j.ymgme.2023.107689. Epub 2023 Aug 25. Mol Genet Metab. 2023. PMID: 37660571 Free PMC article.
Triheptanoin (triheptanoylglycerol) has shown value as anaplerotic therapy for patients with long chain fatty acid oxidation disorders but is contraindicated in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. In search for anaplerotic therapy for patients wit …
Triheptanoin (triheptanoylglycerol) has shown value as anaplerotic therapy for patients with long chain fatty acid oxidation disorders but i …
Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.
Madeira CA, Anselmo C, Costa JM, Bonito CA, Ferreira RJ, Santos DJVA, Wanders RJ, Vicente JB, Ventura FV, Leandro P. Madeira CA, et al. Biochim Biophys Acta Mol Basis Dis. 2023 Oct;1869(7):166766. doi: 10.1016/j.bbadis.2023.166766. Epub 2023 May 29. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37257730 Free article.
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is associated with ACADM gene mutations, leading to an impaired function and/or structure of MCAD. ...
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is associated with ACADM gene mutations, leading to an impaired …
Hypoparathyroidism and medium-chain Acyl-CoA dehydrogenase deficiency, an unusual association.
Huguet I, Díaz-Guerra GM. Huguet I, et al. J Pediatr Endocrinol Metab. 2023 Mar 28;36(5):505-507. doi: 10.1515/jpem-2023-0011. Print 2023 May 25. J Pediatr Endocrinol Metab. 2023. PMID: 36972207
CASE PRESENTATION: We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to G985A homozygous mutation. She was admitted to the emergency department with severe hypocalcaemia and inappropriately normal le …
CASE PRESENTATION: We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficienc …
ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Christen M, Bongers J, Mathis D, Jagannathan V, Quintana RG, Leeb T. Christen M, et al. Genes (Basel). 2022 Oct 13;13(10):1847. doi: 10.3390/genes13101847. Genes (Basel). 2022. PMID: 36292732 Free PMC article.
Based on available clinical and biochemical data together with current knowledge in humans, we propose the ACADM frameshift variant as causative variant for the MCAD deficiency with likely contribution to the neurological phenotype in the index case. Testing the CKC …
Based on available clinical and biochemical data together with current knowledge in humans, we propose the ACADM frameshift variant as causa …
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening.
Mütze U, Nennstiel U, Odenwald B, Haase C, Ceglarek U, Janzen N, Garbade SF, Hoffmann GF, Kölker S, Haas D. Mütze U, et al. Eur J Pediatr. 2022 Jun;181(6):2415-2422. doi: 10.1007/s00431-022-04421-y. Epub 2022 Mar 16. Eur J Pediatr. 2022. PMID: 35294644 Free PMC article.
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial beta-oxidation of fatty acids resulting in hypoketotic hypoglycemia, hepatopathy, and often fatal outcome in undiagnosed children. ...We describe the fatal dise …
Medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most common disorder of mitochondrial beta-oxidation of fa …
Human Milk Feeding in Inherited Metabolic Disorders: A Systematic Review of Growth, Metabolic Control, and Neurodevelopment Outcomes.
Ilgaz F, Höller A, Marsaux C, Banta-Wright S, Coşkun T, Dingess KA, Jörg-Streller M, Newby C, Singh R, Stahl B, Szwec C, van Wegberg A, Woestenenk W, MacDonald A, Karall D. Ilgaz F, et al. J Inherit Metab Dis. 2025 Mar;48(2):e70001. doi: 10.1002/jimd.70001. J Inherit Metab Dis. 2025. PMID: 39912448 Free PMC article.
For non-PKU IMDs (e.g., other amino acidopathies, urea cycle disorders, organic acidemias, fatty acid oxidation disorders), outcomes of HM feeding were available for few infants, except for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (n = 48). In PKU, HM f …
For non-PKU IMDs (e.g., other amino acidopathies, urea cycle disorders, organic acidemias, fatty acid oxidation disorders), outcomes of HM f …
High-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency.
Guerrero-Castillo S, Grün A, Lewandowski N, Gundorova P, Blettenberger LE, Laubach NC, Küchler K, Barroso M, Uetrecht C, Gersting SW. Guerrero-Castillo S, et al. Sci Rep. 2025 Oct 23;15(1):37168. doi: 10.1038/s41598-025-24684-3. Sci Rep. 2025. PMID: 41131340 Free PMC article.
Medium-chain specific acyl-CoA dehydrogenase (MCAD) is a mitochondrial homotetrameric flavoprotein that catalyzes the first step in fatty acid beta-oxidation. MCAD deficiency arises from variants that either impair enzymatic activity or destabilize interactions betw …
Medium-chain specific acyl-CoA dehydrogenase (MCAD) is a mitochondrial homotetrameric flavoprotein that catalyzes the first step in fatty ac …
21 results