About The Medical Condition Deficiency Diseases, UDP-Galactose-4-Epimerase
Find the definition of the medical term Deficiency Diseases, UDP-Galactose-4-Epimerase. Deficiency Diseases, UDP-Galactose-4-Epimerase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Deficiency Diseases, UDP-Galactose-4-Epimerase
| Deficiency Diseases, UDP-Galactose-4-Epimerase Medical Condition |
|---|
What's The Definition Of The Medical Condition Deficiency Diseases, UDP-Galactose-4-Epimerase?
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
- Reductase, NADH-Ferrihemoglobin ‐ An erythrocyte enzyme which catalyzes the reduction of methemoglobin…
- Middle Brachial Plexus Neuropathy ‐ Diseases of the cervical (and first thoracic) roots, nerve trunks,…
- Rejection (Psychology) ‐ Non-acceptance, negative attitudes, hostility or excessive criticism…
- Implantable Infusion Pumps ‐ Implanted fluid propulsion systems with self-contained power…
- Omega-Conotoxin ‐ A family of structurally related neurotoxic peptides from mollusk…
- Computings, Mathematic ‐ Computer-assisted interpretation and analysis of various mathematical…
- Fructose 1-Phosphate Aldolase ‐ An enzyme of the lyase class that catalyzes the cleavage of fructose…
- Ictalurus punctatus ‐ A family of North American freshwater CATFISHES. It consists…
- Polyacid-Modified Composite Resins ‐ Composite materials composed of an ion-leachable glass embedded…
- Dylox ‐ A organochlorophosphate cholinesterase inhibitor that is used…