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Here, we report on a GAII patient carrying a homozygous novel c.143_145delAGG (p.Glu48del) mutation in the <jats:italic>ETFB<\/jats:italic> gene, who presented with a neonatal-onset form with congenital anomalies and rapidly developed cardiomegaly after birth.<\/jats:p>","DOI":"10.1038\/hgv.2015.16","type":"journal-article","created":{"date-parts":[[2015,6,18]],"date-time":"2015-06-18T09:42:20Z","timestamp":1434620540000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel ETFB mutation in a patient with glutaric aciduria type II"],"prefix":"10.1038","volume":"2","author":[{"given":"Yosuke","family":"Sudo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayako","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Wakabayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chikahiko","family":"Numakura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoshi","family":"Hayasaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,6,18]]},"reference":[{"key":"BFhgv201516_CR1","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1016\/j.braindev.2005.06.010","volume":"28","author":"N Gordon","year":"2006","unstructured":"Gordon N . Glutaric aciduria type I and II. Brain Dev 2006; 28: 136\u2013140.","journal-title":"Brain Dev"},{"key":"BFhgv201516_CR2","first-page":"2357","volume-title":"The Metabolic and Molecular Bases of Inherited Disease,","author":"FE Frerman","year":"2001","unstructured":"Frerman FE, Goodman SI . Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: Glutaric acidemia type II. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill: New York, NY, USA, 2001, pp. 2357\u20132365."},{"key":"BFhgv201516_CR3","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1007\/s00246-007-9119-6","volume":"29","author":"M Singla","year":"2008","unstructured":"Singla M, Guzman G, Griffin AJ, Bharati S . Cardiomyopathy in multiple Acyl-CoA dehydrogenase deficiency: a clinico-pathological correlation and review of literature. 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Arch Pathol Lab Med 1988; 112: 1133\u20131139.","journal-title":"Arch Pathol Lab Med"},{"key":"BFhgv201516_CR8","doi-asserted-by":"publisher","first-page":"1188","DOI":"10.1111\/j.1699-0463.1998.tb00276.x","volume":"106","author":"S Kjaergaard","year":"1998","unstructured":"Kjaergaard S, Graem N, Larsen T, Skovby F . Recurrent fetal polycystic kidneys associated with glutaric aciduria type II. APMIS 1998; 106: 1188\u20131193.","journal-title":"APMIS"},{"key":"BFhgv201516_CR9","first-page":"373","volume":"29","author":"A Hockey","year":"1993","unstructured":"Hockey A, Knowles S, Davies D, Carey W, Hurst J, Goldblatt J . Glutaric aciduria type II, an unusual cause of prenatal polycystic kidneys: report of prenatal diagnosis and confirmation of autosomal recessive inheritance. 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