INTRODUCTION: Glutaric aciduria type II (GAII) is a rare autosomal recessive disorder with variable clinical course. The disorder is caused by a defect in the mitochondrial electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase (ETFDH). METHODS: We performed clinical characterization, brain and whole body MRI, muscle histopathology, and genetic analysis of the ETFDH gene in a young woman. RESULTS: She presented with rhabdomyolysis and severe quadriparesis. We identified a novel homozygous missense mutation in ETFDH (c.1544G>T, p.Ser515Ile). Body fat MRI revealed a large amount of subcutaneous fat but no increase in visceral fat despite steatosis of liver and muscle. Diffusion tensor imaging (DTI) of cerebral MRI revealed reduced directionality of the white matter tracts. Histopathological findings showed lipid storage myopathy. CONCLUSIONS: In this study, we highlight diagnostic clues and body fat MRI in this rare metabolic disorder.
INTRODUCTION:Glutaric aciduria type II (GAII) is a rare autosomal recessive disorder with variable clinical course. The disorder is caused by a defect in the mitochondrial electron transfer flavoprotein or the electron transfer flavoprotein dehydrogenase (ETFDH). METHODS: We performed clinical characterization, brain and whole body MRI, muscle histopathology, and genetic analysis of the ETFDH gene in a young woman. RESULTS: She presented with rhabdomyolysis and severe quadriparesis. We identified a novel homozygous missense mutation in ETFDH (c.1544G>T, p.Ser515Ile). Body fat MRI revealed a large amount of subcutaneous fat but no increase in visceral fat despite steatosis of liver and muscle. Diffusion tensor imaging (DTI) of cerebral MRI revealed reduced directionality of the white matter tracts. Histopathological findings showed lipid storage myopathy. CONCLUSIONS: In this study, we highlight diagnostic clues and body fat MRI in this rare metabolic disorder.
Authors: Renata Siciliani Scalco; Alice R Gardiner; Robert Ds Pitceathly; Edmar Zanoteli; Jefferson Becker; Janice L Holton; Henry Houlden; Heinz Jungbluth; Ros Quinlivan Journal: Orphanet J Rare Dis Date: 2015-05-02 Impact factor: 4.123
Authors: Maria Anna Siano; Claudia Mandato; Lucia Nazzaro; Gennaro Iannicelli; Gian Paolo Ciccarelli; Ferdinando Barretta; Cristina Mazzaccara; Margherita Ruoppolo; Giulia Frisso; Carlo Baldi; Salvatore Tartaglione; Francesco Di Salle; Daniela Melis; Pietro Vajro Journal: Front Pediatr Date: 2021-05-10 Impact factor: 3.418