title: Ethylmalonic Encephalopathy in an Indian Boy.
abstract: BACKGROUND
  Ethylmalonic encephalopathy is a rare inborn error of metabolism characterized by neurodevelopmental delay / regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea.
  
  
  METHODS
  4-year-old boy with developmental regression, chronic diarrhea, petechial spots and acrocyanosis. MRI brain showed T2W/FLAIR hyperintensities in bilateral caudate and putamen. Abnormal acyl-carnitine profile and metabolites on urinary GC-MS analysis suggested the diagnosis.
  
  
  METHODS
  Sequencing of ETHE1 gene revealed mutations: c.488G>A and c.375+5G>T (novel).
  
  
  CONCLUSIONS
  EE is clinically-recognizable disorder with typical clinical features.
authors: Institute of Medical Genetics and Genomics and $Department of Molecular Genetics, Sir Ganga Ram Hospital, New Delhi, India; *Department of Health Science, University of Fukui, Japan; and #Department of Pediatrics, Shimane University School of Medicine, Izumo, Shimane, Japan. Correspondence to: Dr Sunita Bijarnia-Mahay, Senior Consultant and Associate Professor, GRIPMER, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India. bijarnia@gmail.com.
authors: Sunita
authors: S
authors: Bijarnia-Mahay
authors: Deepti
authors: D
authors: Gupta
authors: Yosuke
authors: Y
authors: Shigematsu
authors: Seiji
authors: S
authors: Yamaguchi
authors: Renu
authors: R
authors: Saxena
authors: I C
authors: IC
authors: Verma
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn; D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D007194:India; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics; D011693:Purpura
chemical_list: C483228:ETHE1 protein, human; D024101:Mitochondrial Proteins; D029543:Nucleocytoplasmic Transport Proteins