Page last updated: 2024-11-08

serine and Maple Syrup Urine Disease

serine has been researched along with Maple Syrup Urine Disease in 4 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Maple Syrup Urine Disease: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a maple syrup odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19903 (75.00)18.7374
1990's0 (0.00)18.2507
2000's1 (25.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Wellner, D1
Meister, A1
Wynn, RM1
Chuang, JL1
Sansaricq, C1
Mandel, H1
Chuang, DT1
Shaw, KN1
Lieberman, E1
Koch, R1
Donnell, GN1
Levy, HL1
Barkin, E1

Reviews

1 review available for serine and Maple Syrup Urine Disease

ArticleYear
A survey of inborn errors of amino acid metabolism and transport in man.
    Annual review of biochemistry, 1981, Volume: 50

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport

1981

Other Studies

3 other studies available for serine and Maple Syrup Urine Disease

ArticleYear
Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.
    The Journal of biological chemistry, 2001, Sep-28, Volume: 276, Issue:39

    Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Alleles; Arginine; Blotting, Western; Cell Line;

2001
Cystathioninuria.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschoo

1967
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
    The Journal of laboratory and clinical medicine, 1971, Volume: 78, Issue:4

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transp

1971