Affiliation: Shimane University
Yamada K, Ito M, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, et al
. Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report. Brain Dev. 2019;: pubmed publisher
..Although the biochemical findings in FADS deficiency are similar to those in MADD, their clinical symptoms and severity may not be identical. ..
Yamada K, Taketani T. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency. J Hum Genet. 2019;64:73-85 pubmed publisher
..These drugs may be promising for the treatment of FAODs, though further studies are required. ..
Yamada K, Kobayashi H, Bo R, Takahashi T, Purevsuren J, Hasegawa Y, et al
. Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases. Brain Dev. 2016;38:293-301 pubmed publisher
Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa Y, Nakamura M, et al
. Elevation of pivaloylcarnitine by sivelestat sodium in two children. Mol Genet Metab. 2015;116:192-4 pubmed publisher
..In addition, elevated PVC can lead to false positive findings of IVA in newborns screened using MS/MS. ..
Yamada K, Kobayashi H, Bo R, Purevsuren J, Mushimoto Y, Takahashi T, et al
. Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay. Brain Dev. 2017;39:48-57 pubmed publisher
..The effects of higher doses BEZ could not be estimated by the IVP assay but might be small or nonexistent. ..
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, et al
. Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity. Mol Genet Metab. 2017;122:67-75 pubmed publisher
..An appropriate cutoff level is required to achieve adequate sensitivity albeit at the cost of a considerable increase in the false-positive rate, which might be reduced by using additional indices such as C14/C3. ..