Page last updated: 2024-10-17

lactic acid and Homocystinuria

lactic acid has been researched along with Homocystinuria in 2 studies

Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.

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 Excerpts

ExcerptRelevanceReference
"An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD."3.71CblC/D defect combined with haemodynamically highly relevant VSD. ( Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK, 2001)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19901 (50.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Tomaske, M1
Bosk, A1
Heinemann, MK1
Sieverding, L1
Baumgartner, ER1
Fowler, B1
Trefz, FK1
Kolodny, EH1
Yatziv, S1

Other Studies

2 other studies available for lactic acid and Homocystinuria

ArticleYear
CblC/D defect combined with haemodynamically highly relevant VSD.
    Journal of inherited metabolic disease, 2001, Volume: 24, Issue:4

    Topics: Female; Folic Acid; Heart Septal Defects, Ventricular; Homocysteine; Homocystinuria; Humans; Hydroxo

2001
Laboratory approaches for inherited neurometabolic diseases.
    Developmental medicine and child neurology, 1985, Volume: 27, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Galactosemias; Homocystinuria; Humans; Lactates; Lact

1985