Deficiency Disease, UDP-Galactose-4-Epimerase Medical Condition Defined & Explained

About The Medical Condition Deficiency Disease, UDP-Galactose-4-Epimerase

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

Deficiency Disease, UDP-Galactose-4-Epimerase

Deficiency Disease, UDP-Galactose-4-Epimerase Medical Condition
What's The Definition Of The Medical Condition Deficiency Disease, 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)

Deficiency Disease, UDP-Galactose-4-Epimerase Medical Condition

What's The Definition Of The Medical Condition Deficiency Disease, 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

Fistula, Esophagotracheal ‐ Abnormal communication between the esophagus and the trachea,…
GdoI Endonuclease ‐ One of the Type II site-specific deoxyribonucleases (EC 3.1.21.4).…
CAT-1 Transport Protein ‐ A high-affinity, low capacity system y+ amino acid transporter…
Paralyses, Myotonic Periodic ‐ An autosomal dominant familial disorder which presents in infancy…
Amyloidosis, Familial ‐ Diseases in which there is a familial pattern of…
Monoclate ‐ Blood-coagulation factor VIII. Antihemophilic factor that is…
Win40680 ‐ A positive inotropic cardiotonic (CARDIOTONIC AGENTS) with vasodilator…
Behavior Disorders, Social ‐ Behaviors which are at variance with the expected social norm…
Vernal Conjunctivitis ‐ Conjunctivitis due to hypersensitivity to various…
Complexes, Ventricular Premature ‐ Premature contractions of the ventricle, the most common of all…