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Disease Galactosemias

Name Galactosemias
Synonyms Classic Galactosemia | Classic Galactosemias | Deficiencies, Galactokinase | Deficiencies, Galactose-1-Phosphate Uridyltransferase | Deficiencies, Galactose-1-Phosphate Uridylyltransferase | Deficiencies, Galactose Epimerase | Deficiencies, GALE | Deficiencies, GALK | Deficiencies, GALT | Deficiencies, Hereditary Galactokinase | Deficiencies, UDP-Galactose-4-Epimerase | Deficiency Disease, Galactokinase | Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase | Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase | Deficiency Diseases, UDP-Galactose-4-Epimerase | Deficiency Disease, UDP Galactose 4 Epimerase | Deficiency Disease, UDP-Galactose-4-Epimerase | Deficiency Disease, UDPglucose 4 Epimerase | Deficiency Disease, UDPglucose 4-Epimerase | Deficiency, Galactokinase | Deficiency, Galactose-1-Phosphate Uridyltransferase | Deficiency, Galactose-1-Phosphate Uridylyltransferase | Deficiency, Galactose Epimerase | Deficiency Galactosemia, Epimerase | Deficiency Galactosemias, Epimerase | Deficiency, GALE | Deficiency, GALK | Deficiency, GALT | Deficiency, Hereditary Galactokinase | Deficiency, UDP-Galactose-4-Epimerase | Epimerase Deficiency Galactosemia | Epimerase Deficiency Galactosemias | Galactokinase Deficiencies | Galactokinase Deficiencies, Hereditary | Galactokinase Deficiency | Galactokinase Deficiency Disease | Galactokinase Deficiency Diseases | Galactokinase Deficiency, Hereditary | Galactose-1-Phosphate Uridyltransferase Deficiencies | Galactose 1 Phosphate Uridyltransferase Deficiency | Galactose-1-Phosphate Uridyltransferase Deficiency | Galactose 1 Phosphate Uridyl Transferase Deficiency Disease | Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease | Galactose-1-Phosphate Uridylyltransferase Deficiencies | Galactose 1 Phosphate Uridylyltransferase Deficiency | Galactose-1-Phosphate Uridylyltransferase Deficiency | Galactose Epimerase Deficiencies | Galactose Epimerase Deficiency | Galactosemia | Galactosemia 2 | Galactosemia 2s | Galactosemia 3 | Galactosemia 3s | Galactosemia, Classic | GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT, INCLUDED | Galactosemia, Epimerase Deficiency | GALACTOSEMIA II | Galactosemia III | Galactosemia IIIs | Galactosemias, Classic | Galactosemias, Epimerase Deficiency | GALE Deficiencies | GALE Deficiency | GALK Deficiencies | GALK Deficiency | GALT Deficiencies | GALT Deficiency | Hereditary Galactokinase Deficiencies | Hereditary Galactokinase Deficiency | UDP-Galactose-4-Epimerase Deficiencies | UDP Galactose 4 Epimerase Deficiency | UDP-Galactose-4-Epimerase Deficiency | UDP Galactose 4 Epimerase Deficiency Disease | UDP-Galactose-4-Epimerase Deficiency Disease | UDP-Galactose-4-Epimerase Deficiency Diseases | UDPglucose 4 Epimerase Deficiency Disease | UDPglucose 4-Epimerase Deficiency Disease | UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency | UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency | Uridyltransferase Deficiencies, Galactose-1-Phosphate | Uridyltransferase Deficiency, Galactose-1-Phosphate | Uridylyltransferase Deficiencies, Galactose-1-Phosphate | Uridylyltransferase Deficiency, Galactose-1-Phosphate | UTP Hexose 1 Phosphate Uridylyltransferase Deficiency | UTP Hexose-1-Phosphate Uridylyltransferase Deficiency | UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease | UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease
Definition 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 (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D005693
OMIM® IDs 230200 | 230350 | 230400
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Galactosemias Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Galactosemias Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Galactosemias Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Galactosemias Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Galactosemias Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Galactosemias Has associated chemicals Has associated genes

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