KEGG   DISEASE: Lipid storage myopathy due to FLAD1 deficiency
Entry
H02527                      Disease                                
Name
Lipid storage myopathy due to FLAD1 deficiency
Description
Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) was recently reported as a novel riboflavin metabolism disorder resembling multiple acyl-CoA dehydrogenase deficiency (MADD). MADD, also known as glutaric acidemia type II [DS:H00178], is a mitochondrial fatty acid oxidation disorder characterized by combined respiratory-chain deficiency and a neuromuscular phenotype.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H02527  Lipid storage myopathy due to FLAD1 deficiency
Pathway
hsa00740  Riboflavin metabolism
hsa01240  Biosynthesis of cofactors
Gene
FLAD1 [HSA:80308] [KO:K00953]
Other DBs
ICD-11: 5C52.Y
ICD-10: E71.3
MeSH: C562935
OMIM: 255100
Reference
PMID:27259049
  Authors
Olsen RKJ, Konarikova E, Giancaspero TA, Mosegaard S, Boczonadi V, Matakovic L, Veauville-Merllie A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Moslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazza D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H
  Title
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
  Journal
Am J Hum Genet 98:1130-1145 (2016)
DOI:10.1016/j.ajhg.2016.04.006
Reference
PMID:31392824
  Authors
Muru K, Reinson K, Kunnapas K, Lillevali H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Ounap K
  Title
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
  Journal
Mol Genet Genomic Med 7:e915 (2019)
DOI:10.1002/mgg3.915
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