title: A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
abstract: A child is reported presenting with a clinical picture suggestive of genetic connective tissue disorders (vascular fragility, articular hyperlaxity, delayed motor development, and normal cognitive development), an absence of pathological ethylmalonic acid excretion during inter-critical phases and a homozygous R163W mutation in the ETHE1 gene. This case suggests that ethylmalonic aciduria is not a constant biochemical marker of ethylmalonic encephalopathy and that its normal excretion outside of metabolic decompensation episodes does not exclude this metabolic disease.
authors.affiliation: II Pediatric Unit, Gaslini Institute, Largo Gaslini 5, 16147 Genoa, Italy. majadirocco@ospedale-gaslini.ge.it
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
authors.forename: Ubaldo
authors.initials: U
authors.lastname: Caruso
authors.forename: Egill
authors.initials: E
authors.lastname: Briem
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Anna E M
authors.initials: AE
authors.lastname: Allegri
authors.forename: Davide
authors.initials: D
authors.lastname: Buzzi
authors.forename: Valeria
authors.initials: V
authors.lastname: Tiranti
mesh_terms: D001120:Arginine / Q000737:chemistry / Q000235:genetics; D015415:Biomarkers / Q000652:urine; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008314:Malonates / Q000652:urine*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics*; D013912:Threonine / Q000737:chemistry / Q000235:genetics
chemical_list: D015415:Biomarkers; C483228:ETHE1 protein, human; D008314:Malonates; D024101:Mitochondrial Proteins; D029543:Nucleocytoplasmic Transport Proteins; D013912:Threonine; C038080:ethylmalonic acid; D001120:Arginine