Multiple acyl-CoA dehydrogenase deficiency (MADD);[1] Glutaric academia/aceduria type II (GA-II)
Glutaric acid
Specialty
Medical genetics
Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis. It is a metabolic myopathy, categorized under fatty acid metabolism disorder as that is the bioenergetic system that it affects the most. It also affects choline metabolism.[2]
The phenotypic presentation has 3 forms: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III).[3]
Individuals with glutaric acidemia type 2 frequently experience exercise-induced muscle fatigue, hypotonia, myalgia, and proximal muscle weakness.[4] The symptoms not only overlap with another type of metabolic myopathy, that of mitochondrial myopathy, but MADD also impairs the FAD-dependent respiratory chain in the mitochondria of muscle cells, as well as some muscle biopsies showing COX-negative fibres and deficiency of coenzyme Q10.[5][2]
^"Glutaric acidemia type II". Genetics Home Reference. U.S. Department of Health & Human Services. Retrieved 20 August 2018.
^ abHenriques, Bárbara J.; Katrine Jentoft Olsen, Rikke; Gomes, Cláudio M.; Bross, Peter (2021-04-15). "Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease". Gene. 776: 145407. doi:10.1016/j.gene.2021.145407. ISSN 1879-0038. PMC 7949704. PMID 33450351.
^"Glutaric acidemia type II". Genetic and Rare Diseases Information Center. Archived from the original on 21 September 2021. Retrieved 23 February 2023.
^Béhin, A.; Acquaviva-Bourdain, C.; Souvannanorath, S.; Streichenberger, N.; Attarian, S.; Bassez, G.; Brivet, M.; Fouilhoux, A.; Labarre-Villa, A.; Laquerrière, A.; Pérard, L.; Kaminsky, P.; Pouget, J.; Rigal, O.; Vanhulle, C. (March 2016). "Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease". Revue Neurologique. 172 (3): 231–241. doi:10.1016/j.neurol.2015.11.008. ISSN 0035-3787. PMID 27038534.
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