About The Medical Condition Galactokinase Deficiency Disease

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

Galactokinase Deficiency Disease Medical Condition |
---|
What's The Definition Of The Medical Condition Galactokinase 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
- Reductases, Quinone ‐ NAD(P)H:(quinone acceptor) oxidoreductases. A family that includes…
- HIV-Associated Vasculitis of the Central Nervous System ‐ Inflammation of blood vessels of the CENTRAL NERVOUS SYSTEM that…
- Guanidine Phosphate ‐ A strong organic base existing primarily as guanidium ions at…
- NASBA Analyses ‐ An isothermal in-vitro nucleotide amplification process. The…
- Protease, RecA ‐ Protein from E.coli rec gene. Catalyzes the ATP-driven exchange…
- Onset Age ‐ The age or period of life at which a disease or the initial symptoms…
- Restriction, Selective Provider ‐ Laws requiring patients under managed care programs to receive…
- RAP1GRF1 ‐ A 145-kD guanine nucleotide exchange factor that is specific…
- Polymer, Oxyethylene Oxypropylene ‐ A copolymer of polyethylene and polypropylene ether glycol. It…
- Methicillin Sodium ‐ One of the PENICILLINS which is resistant to penicillinase but…