Page last updated: 2024-10-20

thiamine and Galactosemias

thiamine has been researched along with Galactosemias in 2 studies

thiamine(1+) : A primary alcohol that is 1,3-thiazol-3-ium substituted by (4-amino-2-methylpyrimidin-5-yl)methyl, methyl and 2-hydroxyethyl groups at positions 3, 4 and 5, respectively.

Galactosemias: A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19902 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Roth, KS1
Holtzman, NA1

Reviews

1 review available for thiamine and Galactosemias

ArticleYear
Dietary treatment of inborn errors of metabolism.
    Annual review of medicine, 1970, Volume: 21

    Topics: Ammonia; Carbohydrate Metabolism, Inborn Errors; Diet Therapy; Female; Fructose; Galactosemias; Glyc

1970

Other Studies

1 other study available for thiamine and Galactosemias

ArticleYear
Newborn metabolic screening: a search for "nature's experiments".
    Southern medical journal, 1986, Volume: 79, Issue:1

    Topics: Biopterins; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Keto Acids; Maple Syrup Urine Di

1986