Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition
resulting in hepatic failure with comorbidities involving the renal and neurologic systems and …

The expansion of national newborn screening (NBS) programmes has provided significant
benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing …

Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—
is critical, given that many respond well to targeted therapy. Newborn screening programs …

Background Rapid reviews are increasingly used to replace/complement systematic reviews
to support evidence‐based decision‐making. Little is known about how this expedited …

Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by
deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (eg, oral …

Six inherited disorders of tyrosine metabolism are known. Hereditary tyrosinaemia type I is
characterised by progressive liver disease and renal tubular dysfunction with rickets …

Dried blood spot succinylacetone (SA) is often used as a biomarker for newborn screening
(NBS) for tyrosinemia type 1 (TT1). However, false‐positive SA results are often observed …

Mass spectrometry (MS) is a sensitive, specific and versatile analytical technique in the
clinical laboratory that has recently undergone rapid development. From initial use in …

Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for
developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated …

Background Classical homocystinuria (HCU) results from deficient cystathionine β-synthase
activity, causing elevated levels of Met and homocysteine (Hcy). Newborn screening (NBS) …