Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I

Saumya S Jamuar; Stephanie A Newton; Sanjay P Prabhu; Leah Hecht; Karen C Costas; Ann E Wessel; David J Harris; Irina Anselm; Gerard T Berry

doi:10.1016/j.ymgme.2012.05.018

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I

Mol Genet Metab. 2012 Aug;106(4):488-90. doi: 10.1016/j.ymgme.2012.05.018. Epub 2012 May 30.

Authors

Saumya S Jamuar¹, Stephanie A Newton, Sanjay P Prabhu, Leah Hecht, Karen C Costas, Ann E Wessel, David J Harris, Irina Anselm, Gerard T Berry

Affiliation

¹ Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

PMID: 22771013
DOI: 10.1016/j.ymgme.2012.05.018

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.

Publication types

Case Reports

MeSH terms

Acute Kidney Injury / complications*
Amino Acid Metabolism, Inborn Errors / complications*
Brain Diseases, Metabolic / complications*
Child
Diffusion Magnetic Resonance Imaging
Dystonia / complications*
Follow-Up Studies
Glutaryl-CoA Dehydrogenase / deficiency
Heart Arrest / complications*
Humans
Infant
Male
Rhabdomyolysis / complications*

Substances

Glutaryl-CoA Dehydrogenase

Supplementary concepts

Glutaric Acidemia I