About The Medical Condition Disease, UDP-Galactose-4-Epimerase Deficiency
Find the definition of the medical term Disease, UDP-Galactose-4-Epimerase Deficiency. Disease, UDP-Galactose-4-Epimerase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Disease, UDP-Galactose-4-Epimerase Deficiency
| Disease, UDP-Galactose-4-Epimerase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition Disease, UDP-Galactose-4-Epimerase Deficiency?
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 (OVARIAN FAILURE, PREMATURE); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Child Mortalities ‐ Perinatal, neonatal, and infant deaths in a given…
- Allotype, kappa ‐ Hereditary serologic types based on antigenic differences in…
- Conformation, Carbohydrate ‐ The characteristic 3-dimensional shape of a…
- Heymanns Antigen ‐ A complex of antigenic proteins obtained from the brush border…
- Animal Helminthiases ‐ Infestation of animals with parasitic worms of the helminth class.…
- Wheat ‐ The most nutritious of the cereal grasses (POACEAE), Triticum…
- Glycerol Ethers ‐ Compounds in which one or more of the three hydroxyl groups of…
- Organothiophosphorus Compounds ‐ Compounds containing carbon-phosphorus bonds in which the phosphorus…
- Surgical Procedures, Minor ‐ Surgery restricted to the management of minor problems and injuries;…
- Macrophage Inflammatory Proteins ‐ Heparin-binding proteins that exhibit a number of inflammatory…