homocystinuria/tyrosine

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Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria.

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A multiple screening program to establish the frequency of congenital hypothyroidism (CH), phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria and hypertyrosinemia in endemic and sporadic goitrous regions of Italy is being carried out. Valine, methionine, leucine, isoleucine,

Abnormal Amino Acid Profiles of Blood and Cerebrospinal Fluid from Cystathionine β-Synthase-Deficient Mice, an Animal Model of Homocystinuria.

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Mental retardation is the most common feature among inborn errors of amino acid metabolism. Patients with homocystinuria/homocysteinemia caused by cystathionine β-synthase (CBS) deficiency suffer from thromboembolism and mental retardation from early ages; therefore, detection by newborn screening

Cystinylglycine in plasma: diagnostic relevance for pyroglutamic acidemia, homocystinuria, and phenylketonuria.

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Cystinylglycine, recently identified as a normal small peptide in human plasma, has diagnostic importance for several genetically determined disorders. We found cystinylglycine absent from the plasma of a patient with pyroglutamic acidemia, and the peptide was either absent or greatly reduced in

Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

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Since a few years ESI-MS/MS has been employed for the simultaneous detection of a wide range of inborn errors of metabolism. The screening center North at the Hamburg University Medical Center processes 40-50,000 samples per year. To assess current developments in neonatal screening, the Northern

Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.

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Background: The continued identfication of new mutations in the cystathionine beta-synthase (CBS) gene is important in correlating the genotype/phenotype of patients with classic homocystinuria and in assessing whether heterozygosity of CBS deficiency is an important cause of mild

Homocysteine-lowering gene therapy rescues signaling pathways in brain of mice with intermediate hyperhomocysteinemia.

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Hyperhomocysteinemia due to cystathionine beta synthase (CBS) deficiency is associated with diverse cognitive dysfunction. Considering the role of the serine/threonine kinase DYRK1A, not only in developmental defects with life-long structural and functional consequences, but also in multiple

Detection of inborn errors of metabolism in unselected patients from pediatric intensive care units in Porto Alegre, Brazil: evaluation of screening techniques.

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1. The present study provides an analysis of the interpretation and usefulness of mass biochemical urine screening tests currently applied to a population of severely ill children consisting of 232 unselected individuals, under various medications, held in intensive care units. 2. Testing for

[Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)].

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The influence of inborn errors of metabolism on the amino acid content, the structure and growth of human hair has been studied in patients suffering from Phenylketonuria, Cystinosis, Homocystinuria and Tyrosinosis. Examiniation of hairs under the scanning electron microscope reveals defects and

Molecular rescue of DYRK1A overexpression in cystathionine beta synthase-deficient mouse brain by enriched environment combined with voluntary exercise.

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Hyperhomocysteinemia resulting from cystathionine beta synthase (CBS) deficiency can produce cognitive dysfunction. We recently found that CBS-deficient mice exhibit increased expression of the serine/threonine kinase dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1A (DYRK1A) in the

An undescribed subset of neonatal intrahepatic cholestasis associated with multiple hyperaminoacidemia.

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Five patients of cholestatic jaundice and multiple hyperaminoacidemias were uncovered during neonatal mass screening for homocystinuria. All five patients had increased plasma levels of methionine, citrulline, tyrosine, threonine, phenylalanine, lysine and arginine. Compared with those of

The effectiveness of correcting abnormal metabolic profiles.

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Inborn errors of metabolism cause disease because of accumulation of a metabolite before the blocked step or deficiency of an essential metabolite downstream of the block. Treatments can be directed at reducing the levels of a toxic metabolite or correcting a metabolite deficiency. Many disorders

Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation.

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Two Korean sisters, one detected during neonatal screening, the other ascertained at age 3 years during family screening, have persistent hypermethioninaemia without elevation of plasma tyrosine or severe liver disease. Plasma total homocysteine (tHcy) is mildly elevated, but not so markedly as to

Glycine N -methyltransferase deficiency: a new patient with a novel mutation.

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We report studies of a Greek boy of gypsy origin that show that he has severe deficiency of glycine N -methyltransferase (GNMT) activity due to apparent homozygosity for a novel mutation in the gene encoding this enzyme that changes asparagine-140 to serine. At age 2 years he was found to have

Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (CBS) reveal effects on CBS activity but not stability.

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Mutations in the cystathionine β-synthase (CBS) gene are the cause of classical homocystinuria, the most common inborn error in sulfur metabolism. The p.G307S mutation is the most frequent cause of CBS deficiency in Ireland, which has the highest prevalence of CBS deficiency in Europe. Individuals

Dyrk1A, a serine/threonine kinase, is involved in ERK and Akt activation in the brain of hyperhomocysteinemic mice.

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Hyperhomocysteinemia due to cystathionine beta synthase (CBS) deficiency is associated with diverse brain disease. Whereas the biological actions linking hyperhomocysteinemia to the cognitive dysfunction are not well understood, we tried to establish relationships between hyperhomocysteinemia and

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