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

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

“…Fourty years after the description of the index patients (Goodman et al 1975), we report for the first time chronic renal failure in adult GA1 patients. So far, acute renal failure caused by nephrotic syndrome in infancy (Pöge et al 1997)or rhabdomyolysis during status dystonicus during childhood (Jamuar et al 2012), respectively, have been reported in two patients. Interestingly, high-protein diet in a murine model for GA1 caused a renal phenotype (Thies et al 2013), and glutaric and 3-hydroxyglutaric acid interfere with the transport of organic anions and dicarboxylic acids in renal proximal tubule cells (Hagos et al 2008;Stellmeretal2007)providingamechanistic link.…”

Status dystonicus: a practice guide

“…The main triggers include infection (particularly gastroenteritis with dehydration) and medication adjustment . Trauma, surgical procedures, anaesthesia, ‘metabolic disorder’ decompensation, stress, pain, gastro‐oesophageal reflux disease, constipation, and puberty‐related deterioration in CP are less commonly reported, but these conditions, as well as discomfort of any cause, should be considered . In about one‐third of cases no obvious trigger is identified …”

Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review

“…Recurrent rhabdomyolysis was thought to be caused by viral infection in two patients [4,5] and febrile illness in one. [6] Fever as a symptom of rhabdomyolysis occurred in all patients, and other common symptoms included encephalopathy, shock, myoglobinuria, and respiratory distress. Of the three patients, 2 died, and one became disabled.…”

“…[4][5][6] These patients aged from 4 to 8 years (except for our patient) suffered from GA-I, which was treated with carnitine and riboflavin, and protein was restricted. Recurrent rhabdomyolysis was thought to be caused by viral infection in two patients [4,5] and febrile illness in one.…”