About The Medical Condition UTP Hexose-1-Phosphate Uridylyltransferase Deficiency
Find the definition of the medical term UTP Hexose-1-Phosphate Uridylyltransferase Deficiency. UTP Hexose-1-Phosphate Uridylyltransferase Deficiency defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency
| UTP Hexose-1-Phosphate Uridylyltransferase Deficiency Medical Condition |
|---|
What's The Definition Of The Medical Condition UTP Hexose-1-Phosphate Uridylyltransferase 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
- Prosthesis, Laryngeal ‐ A device, activated electronically or by expired pulmonary air,…
- Radiculitides ‐ Disease involving a spinal nerve root (see SPINAL NERVE ROOTS)…
- Short Rib-Polydactyly Syndrome ‐ A syndrome inherited as an autosomal recessive trait and incompatible…
- Monosodium Salt Estradiol ‐ The most potent mammalian estrogenic hormone. It is produced…
- Liver Microsome ‐ Closed vesicles of fragmented endoplasmic reticulum created when…
- Spinocerebellar Ataxia Type 1 ‐ A group of dominantly inherited, predominantly late-onset, cerebellar…
- FusA Protein ‐ Peptide Elongation Factor G catalyzes the translocation of peptidyl-tRNA…
- Dry Ice ‐ A solid form of carbon dioxide used as a…
- Salmoniforme ‐ An order of fish comprising pikes, salmons, mudminnows, smelts,…
- Ulcer, Diabetic Foot ‐ Ulcers of the foot as a complication of diabetes. Diabetic foot,…