Page last updated: 2024-11-08

alanine and Homocystinuria

alanine has been researched along with Homocystinuria in 6 studies

Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.

Homocystinuria: Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19904 (66.67)18.7374
1990's0 (0.00)18.2507
2000's1 (16.67)29.6817
2010's1 (16.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Kožich, V1
Krijt, J1
Sokolová, J1
Melenovská, P1
Ješina, P1
Vozdek, R1
Majtán, T1
Kraus, JP1
Goyette, P1
Rozen, R1
Greco, GM1
Magli, A1
Kodama, H1
Ikegami, T1
Yao, K1
Oura, T1
François, J1
Hyánek, J1
Bremer, HJ1
Slavik, M1

Reviews

2 reviews available for alanine and Homocystinuria

ArticleYear
[Eye manifestations of amino acid disorders].
    Minerva pediatrica, 1978, May-31, Volume: 30, Issue:10

    Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria

1978
Ocular manifestations in aminoacidopathies.
    Advances in ophthalmology = Fortschritte der Augenheilkunde = Progres en ophtalmologie, 1972, Volume: 25

    Topics: Adult; Alanine; Albinism; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis;

1972

Other Studies

4 other studies available for alanine and Homocystinuria

ArticleYear
Thioethers as markers of hydrogen sulfide production in homocystinurias.
    Biochimie, 2016, Volume: 126

    Topics: Alanine; Cells, Cultured; Cystathionine; Cystathionine beta-Synthase; Female; Fibroblasts; Homocysti

2016
The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
    Human mutation, 2000, Volume: 16, Issue:2

    Topics: Alanine; Alleles; Amino Acid Substitution; Catalytic Domain; Cytosine; Enzyme Activation; Gene Expre

2000
Effect of pyridoxine treatment of a homocystinuric patient on the urinary excretion of some sulfur-containing amino acids.
    Acta medica Okayama, 1974, Volume: 28, Issue:4

    Topics: Alanine; Amino Acids, Sulfur; Cystinuria; Disulfides; Homocysteine; Homocystine; Homocystinuria; Hum

1974
'Homocystinuria' and urinary excretion of beta-amino acids in patients treated with 6-azauridine.
    Clinica chimica acta; international journal of clinical chemistry, 1969, Volume: 25, Issue:2

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Cellulose; Chromatography;

1969