The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia
and methylmalonic acidaemia
Indications for CLKT in children Indication Our cohort, n Literature, n PH1 4 49 PKD 3 17 * Factor H deficiency 1 ([dagger]) 7 Methylmalonic acidaemia
7 [alpha]1-antitrypsin deficiency 4 Cyclosporin toxicity 2 Failed prior liver transplant 2 Cystinosis 1 Drug toxicity 1 Glycogen storage disease 1a 1 Auto-immune hepatitis/hepatorenal 1 syndrome Sclerosing cholangitis/interstitial 1 nephritis Biliary atresia 1 Liver disease secondary 1 to parenteral nutrition CLKT = combined liver-kidney transplantation; PH1 = primary hyperoxaluria type 1; PKD = polycystic kidney disease.
Factors which increase susceptibility have been extensively reviewed elsewhere (12) and include older age, lower weight, pregnancy, organ dysfunction, hypoxia, acidaemia
and possibly epilepsy.
The impact of screening for propionic and methylmalonic acidaemia
Mitochondrial injury in the pathogenesis of antiretroviral-induced hepatic steatosis and lactic acidaemia
a] or excessive activities of circulating but unmeasured ions, another discriminatory index may be required to aid in the diagnosis of patients where significant and undifferentiated acidaemia
is a clinical problem.
The correction of hyperglycaemia and metabolic acidaemia
was achieved at a rate comparable to intravenous therapy.
DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia
By contrast, acidaemia
, as produced by the SID 0 mEq/l fluid, can protect against bio-energetic stress (40-43), despite pro-inflammatory effects and iNOS promotion (16,17).
and bradyarrythmia in a child sedated with propofol.
Inhibition of [beta]-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia