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9,360 Possible Causes for Acid, Amino, Errors,, Inborn, Metabolism

Did you mean: acne, aging, Errors, Inborn, Metabolism

  • Metabolic Disorder of Amino Acids

    Several classic inborn errors of metabolism can be detected by the accumulation of certain amino acids as metabolites in body fluids like serum and urine.[] Tyrosine is a polar nonessential amino acid that is coded by UAC or UAU. It is caused by the deficiency of enzymes that break down the amino acid (Lehninger, 2008).[] Abstract The diagnosis of inherited metabolic disorders of amino acid (AA) metabolism is based on the qualitative and/or the quantitative analysis of AAs, mainly in blood[] Infants and children with treatable errors of metabolism can be identified by screening newborns for meaningful metabolite biomarkers.[] Tyrosine is a polar nonessential amino acid that is coded by UAC or UAU. It is caused by the deficiency of enzymes that break down the amino acid (Lehninger, 2008).[]

  • Methylmalonic Acidemia

    An inborn error of metabolism leading to chronic metabolic acidosis. Statistics from This is a PDF-only article.[] Analysis of plasma free amino acids in a 15-month-old Thai infant by HPLC showed marked elevation of glycine.[] Gov't MeSH terms Amino Acid Metabolism, Inborn Errors/genetics Amino Acid Metabolism, Inborn Errors/metabolism* Animals Child, Preschool Crosses, Genetic Disease Models, Animal[] Branched chain amino acid metabolism disorder Cobalamin C disease Disorder of branched-chain amino acid metabolism Maple syrup urine disease Methylmalonic acidemia Methylmalonic[] Abstract Methylmalonic acidemia is one of the most prevalent inherited metabolic disorders involving neurological deficits.[]

  • Isovaleric Acidemia

    Abstract Isovaleric acidemia is a rare autosomal recessive inborn error of leucine metabolism.[] This deletion is caused by an error in RNA splicing and predicts the in-frame deletion of 30 amino acids beginning with leucine 20 of the mature IVD.[] OBJECTIVE: To determine the effect of the previously identified amino-acid conjugates and conventional dietary protein restriction therapy, on the free amino-acid concentrations[] This enzymatic deficiency leads to severe metabolic derangement, manifested clinically as vomiting, dehydration, and acidosis progressing to seizures, coma, and death.[] Inhibitory effects of methylenecyclopropylacetic acid on leucine metabolism in normal cells were also investigated.[]

  • Propionic Acidemia

    Walter Springer Science & Business Media , 22 nov. 2006 - 561 pagini Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and[] STUDY DESIGN: Clinical symptoms, genotype, and biochemical findings were analyzed retrospectively in 58 individuals with PA enrolled in the Inborn Errors of Metabolism Information[] […] propionyl-CoA carboxylase deficiency and distinct amino acid behavior.[] Abstract Two abnormal metabolites, 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid, have been identified and quantitated in the urine of a child with propionic[] Clinical and biochemical data of patients from 16 metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively.[]

  • Maple Syrup Urine Disease

    Abstract The New South Wales state-wide newborn screening programme has offered comprehensive screening for inborn errors of metabolism, including MSUD, using electrospray[] For each amino acid a total of 34 data pairs was calculated.[] metabolism.[] KEYWORDS: Inborn amino acidopathies; Inborn errors of metabolism; Inherited metabolic disorders; Maple syrup urine disease; Nutrition therapy/diet therapy; Practice guidelines[] Abstract Maple syrup urine disease is a rare inborn error of metabolism, characterized by elevated plasma levels of branched chain amino acids and urinary excretion of branched[]

  • Phenylketonuria

    Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH).[] The aim of the present study was to examine trace elements (Zn, Cu, Mn, Se, Fe, Co, Cr, Ni, Cd, Pb), minerals (Ca, Mg, K), amino acids status in children with phenylketonuria[] Folic acid serum concentrations and intake were elevated.[] Abstract Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment.[] Please try again later, and report the problem if the error continues. You may report this error to the responsible DOI Registration Agency using the form below.[]

  • Hawkinsinuria

    Hawkinsinuria is a rarely diagnosed autosomal dominantly transmitted inborn error of tyrosine metabolism with impaired conversion of 4-hydroxyphenylpyruvate to homogentisate[] The tolerance toward these amino acids normalizes as the patients get older.[] An infant in this family presented with metabolic acidosis and excreted quinolacetic acid and pyroglutamic acid in the urine together with the tyrosine derived phenolic acids[] […] write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders.[] BACKGROUND: Hawkinsinuria is a rare inborn error of tyrosine metabolism.[]

  • Homocystinuria

    SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.Date of the most recent search of the Inborn[] In this review, we describe the published data on mitochondrial dysfunction, oxidative stress, and impaired redox signaling in branched-chain amino acid disorders, other organic[] The relationship between variability and the underlying metabolic processes or compliance has not yet been completely ascertained.[] SEARCH STRATEGY: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.Date of the most recent search of the Inborn[] Deficiency, methylenetetrahydrofolate reductase Disorder of sulfur-bearing amino acid metabolism Disorder of sulphur bearing amino acid metabolism Heterozygous methylenetetrahydrofolate[]

  • Disorder of Ornithine Metabolism

    […] errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism[] This is a group of inherited defects of the degradation of amino acids.[] […] ornithine • Disorder metabolism NOS ornithine • Disorder ornithine metabolism • Disorder urea cycle metabolism ornithine transcarbamylase deficiency • Disturbance metabolism[] […] years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors[] . orphan designation for two of our lead candidates, DTX101 for hemophilia B and now DTX301, recognizing the substantial need for new approaches to hemophilia and inborn errors[]

  • Tyrosinemia

    Tyrosinemia or tyrosinaemia is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine.[] IMAN #1, piso 9, Insurgentes-Cuicuilco, CP 04530, Ciudad de México, México. 4 Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Av.[] Firstly, we aimed to calculate how the plasma amino acid profile in HT1 patients may influence the presumptive brain influx of all large neutral amino acids (LNAA).[] The enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) catalyzes the reaction of 4-hydroxyphenylpyruvic acid to homogentisic acid in the tyrosine catabolism pathway.[] However, the tyrosine metabolic pathway was intact. Unique findings include optic atrophy, cerebellar degeneration, and exocrine pancreatic hypoplasia.[]