Type IV 3-methylglutaconic (3-MGC) aciduria: a new case presenting with hepatic dysfunction.
We describe a new patient with type IV 3-methylglutaconic aciduria who presented with a clinical picture simulating a primary hepatic disorder subsequently followed with progressive neurologic impairment and an magnetic resonance imaging picture of Leigh syndrome.
Broide
E
E
Pediatric Division, Assaf Harofeh Medical Center, Zerifin, Israel.
Elpeleg
O
O
Lahat
E
E
D003937:Diagnosis, Differential; D018450:Disease Progression; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis / Q000652:urine*; D008107:Liver Diseases / Q000175:diagnosis / Q000652:urine*; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis / Q000652:urine*
D005977:Glutarates; C022034:3-methylglutaconic acid