galactosemias/tyrosine

The liver is one of the most essential organs in metabolism and is responsible for metabolizing a wide variety of molecules from amino acids to sugars. Although it is responsible for many essential metabolic processes, it is one of the most severely affected by metabolic disease because, in many

UDP-galactose 4-epimerase catalyzes the interconversion of UDP-glucose and UDP-galactose during normal galactose metabolism. In humans, deficiencies in this enzyme lead to the complex disorder referred to as epimerase-deficiency galactosemia. Here, we describe the high-resolution X-ray

A clinical, enzymatic, and pathological study of an infant with the acute form of hereditary tyrosinaemia is presented. Treatment with a diet low in methionine, tyrosine, and phenylalanine was unsuccessful. A selection of specific and nonspecific hepatic enzymes, obtained at necropsy within one hour

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a kind of inborn errors of metabolism, with the main clinic manifestations of jaundice, hepatomegaly, and abnormal liver function indices. As a mitochondrial solute carrier protein, citrin plays important roles in aerobic

13C-phenylalanine (PheBT) and 13C-galactose breath tests (GBT) explore non invasively the hepatic functional mass by measuring two enzymatic activities localized into the cytosol of liver cells: the phenylalanine hydroxylase (which converts phenylalanine into tyrosine) and the galactose kinase

Hawkinsinuria is a rarely diagnosed autosomal dominantly transmitted inborn error of tyrosine metabolism with impaired conversion of 4-hydroxyphenylpyruvate to homogentisate. As a consequence of the defective 4-hydroxyphenylpyruvate dioxigenase activity, large amounts of the unusual,

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,

Worldwide, ocular cataracts are a major cause of human blindness. A key goal of cataract-related research is to identify simple, cost-efficient but effective ways to prevent cataract formation or progression. Genistein is a naturally occurring dietary isoflavone with well-documented estrogenic,

A capillary gas chromatographic method for the profiling of trimethylsilylated mono- and disaccharides and polyols in urine, plasma and unwashed and washed erythrocytes is described. The prepurification method is based on the moderate inhibition of the derivatization experienced in the presence of

Citrin, encoded by SLC25A13, is a liver-type mitochondrial aspartate-glutamate carrier (AGC), of which deficiency, in autosomal recessive trait, causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). NICCD patients have jaundice, hypoproteinemia,