About The Medical Condition UDPglucose 4-Epimerase Deficiency Disease

ClusterMed

Find the definition of the medical term UDPglucose 4-Epimerase Deficiency Disease. UDPglucose 4-Epimerase Deficiency Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

UDPglucose 4-Epimerase Deficiency Disease

UDPglucose 4-Epimerase Deficiency Disease Medical Condition Defined & Explained
UDPglucose 4-Epimerase Deficiency Disease Medical Condition

What's The Definition Of The Medical Condition UDPglucose 4-Epimerase Deficiency Disease?

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

  • Dehydratases, 3-Hydroxyacyl ‐ An enzyme that catalyzes reversibly the hydration of unsaturated…
  • Genetically Modified Organism ‐ Organisms whose GENOME has been changed by a GENETIC ENGINEERING…
  • Neurotheceomas ‐ A benign myxoma of cutaneous nerve sheath origin. Theke is from…
  • Lens Dislocation ‐ Incomplete rupture of the zonule with the displaced lens remaining…
  • Bakers Cyst ‐ A synovial cyst in the popliteal space arising from the semimembranous…
  • Hiccups ‐ A spasm of the diaphragm that causes a sudden inhalation followed…
  • Thogoto-Like Virus ‐ A genus of the family ORTHOMYXOVIRIDAE comprising tick-borne…
  • Sinus, Dermal ‐ A common congenital midline defect of fusion of the vertebral…
  • Acacia ‐ Any leguminous woody vine or tree of the genus Acacia, also called…
  • Spongiform Encephalopathy, Transmissible ‐ A group of genetic, infectious, or sporadic degenerative human…