BACKGROUND Succinylacetone (SUAC) is the primary metabolic marker for hepatorenal tyrosinemia. MATERIALS AND METHODS We used results reported for dried-blood-spot proficiency testing (PT) specimens and hepatorenal tyrosinemia patients' newborn screening (NBS) samples to demonstrate analytic biases in SUAC recoveries and differences in presumptive clinical classifications. RESULTS SUAC recov...

Tyrosinemie typ 1 (TYR 1) je vzácné autosomálně recesivní onemocnění z okruhu dědičných poruch metabolismu aminokyselin. Podkladem jsou bialelické mutace v genu FAH, vedoucí k poruše aktivity fumarylacetoacetáthydrolázy, klíčového enzymu tyrosinu. U dětí s TYR dochází alternativní metabolickou cestou nadprodukci toxických metabolitů, především sukcinylacetonu a fumar...

BACKGROUND Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment st...

background : diabetes mellitus is a metabolic disorder and is considered as the sixth most common cause of mortality. hospital readmission in patients with diabetes is important and can impose great costs on the health system. therefore, this study investigated factors affecting the readmission of patients with type ii diabetes to selected hospitals in kermanshah, iran, in 2012. methods: this w...

Tyrosinemia resulting from administration of protein-dense infant diets was detected by newborn screening in two infants. Change of formula resulted in rapid resolution of the hypertyrosinemia. These cases identify nonstandard infant diets as a benign and reversible cause of tyrosinemia and a potential cause of positive newborn phenylketonuria screening.

Neurometabolic disorders such as tyrosinemia type 1 (TYRSN1) may interfere with brain metabolism and show symptoms of attention-deficit hyperactivity disorder (ADHD) in patients treated the enzyme inhibitor nitisinone [2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione, NTBC]. It has been reported that ADHD treatment improves compliance, which is imperative for long-term prognosis TYRSN1...