title: Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I.
abstract: An 8-½ year old boy with glutaric aciduria type I (GA1) and chronic dystonia presented with severe rhabdomyolysis in association with a febrile illness. His clinical course was complicated by acute renal failure, cardiac arrest and hypoxic ischemic encephalopathy. As acute neurological decompensation is typically not seen in patients with GA1 beyond early childhood, this case report serves as an important reminder that patients with GA1 and status dystonicus may be at risk for acute life-threatening rhabdomyolysis, renal failure and further neurological injury at any age.
authors: Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.
authors: Saumya S
authors: SS
authors: Jamuar
authors: Stephanie A
authors: SA
authors: Newton
authors: Sanjay P
authors: SP
authors: Prabhu
authors: Leah
authors: L
authors: Hecht
authors: Karen C
authors: KC
authors: Costas
authors: Ann E
authors: AE
authors: Wessel
authors: David J
authors: DJ
authors: Harris
authors: Irina
authors: I
authors: Anselm
authors: Gerard T
authors: GT
authors: Berry
mesh_terms: D058186:Acute Kidney Injury / Q000150:complications*; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D001928:Brain Diseases, Metabolic / Q000150:complications*; D002648:Child; D038524:Diffusion Magnetic Resonance Imaging; D004421:Dystonia / Q000150:complications*; D005500:Follow-Up Studies; D050770:Glutaryl-CoA Dehydrogenase / Q000172:deficiency; D006323:Heart Arrest / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D012206:Rhabdomyolysis / Q000150:complications*
chemical_list: D050770:Glutaryl-CoA Dehydrogenase