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
- NADH Diaphorase ‐ A flavoprotein that catalyzes the reduction of lipoamide by NADH…
- Salazopyrin ‐ A drug that is used in the management of inflammatory bowel diseases.…
- Rite, Funeral ‐ Those customs and ceremonies pertaining to…
- Acid, Triiodobenzoic ‐ Triiodo-substituted derivatives of…
- Selenious Acid ‐ A selenium compound used as a source of SELENIUM, especially…
- Venom, Arachnid ‐ Venoms of arthropods of the order Araneida of the Arachnida.…
- Bladder, Atonic Neurogenic ‐ Dysfunction of the urinary bladder due to disease of the central…
- HPD-ECGF ‐ The enzyme catalyzing the transfer of 2-deoxy-D-ribose from thymidine…
- Anomies ‐ A state of social disorganization and demoralization in society…
- Syndrome, Low T3 ‐ Abnormalities in thyroid hormone and thyroid-stimulating hormone…