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

Southwestern Blots ‐ A method that is used to detect DNA-protein interactions. Proteins…
Proportional Hazards Model ‐ Statistical models used in survival analysis that assert that…
Hydroxide, Calcium ‐ A white powder prepared from lime that has many medical and industrial…
Female Inhibin ‐ Glycoproteins that inhibit pituitary FOLLICLE STIMULATING HORMONE…
Dopamine Receptor Agonist ‐ Drugs that bind to and activate dopamine…
Anisotropy, Fluorescence ‐ Measurement of the polarization of fluorescent light from solutions…
Hallucinations, Hypnagogic ‐ Subjectively experienced sensations in the absence of an appropriate…
Boxfishes ‐ A small order of primarily marine fish containing 340 species.…
Isoprostanes ‐ A series of prostaglandin-like compounds that are produced by…
Purpuras, Idiopathic Thrombocytopenic ‐ Thrombocytopenia occurring in the absence of toxic exposure or…