Galactosemias

Synonyms

Classic Galactosemia

Classic Galactosemias

Deficiencies, GALE

Deficiencies, GALK

Deficiencies, GALT

Deficiencies, Galactokinase

Deficiencies, Galactose Epimerase

Deficiencies, Galactose-1-Phosphate Uridyltransferase

Deficiencies, Galactose-1-Phosphate Uridylyltransferase

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 Disease, UDP Galactose 4 Epimerase

Deficiency Disease, UDP-Galactose-4-Epimerase

Deficiency Disease, UDPglucose 4 Epimerase

Deficiency Disease, UDPglucose 4-Epimerase

Deficiency Diseases, UDP-Galactose-4-Epimerase

Deficiency Galactosemia, Epimerase

Deficiency Galactosemias, Epimerase

Deficiency, GALE

Deficiency, GALK

Deficiency, GALT

Deficiency, Galactokinase

Deficiency, Galactose Epimerase

Deficiency, Galactose-1-Phosphate Uridyltransferase

Deficiency, Galactose-1-Phosphate Uridylyltransferase

Deficiency, Hereditary Galactokinase

Deficiency, UDP-Galactose-4-Epimerase

Epimerase Deficiency Galactosemia

Epimerase Deficiency Galactosemias

GALE Deficiencies

GALE Deficiency

GALK Deficiencies

GALK Deficiency

GALT Deficiencies

GALT Deficiency

Galactokinase Deficiencies

Galactokinase Deficiencies, Hereditary

Galactokinase Deficiency

Galactokinase Deficiency Disease

Galactokinase Deficiency Diseases

Galactokinase Deficiency, Hereditary

Galactose 1 Phosphate Uridyl Transferase Deficiency Disease

Galactose 1 Phosphate Uridyltransferase Deficiency

Galactose 1 Phosphate Uridylyltransferase Deficiency

Galactose Epimerase Deficiencies

Galactose Epimerase Deficiency

Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

Galactose-1-Phosphate Uridyltransferase Deficiencies

Galactose-1-Phosphate Uridyltransferase Deficiency

Galactose-1-Phosphate Uridylyltransferase Deficiencies

Galactose-1-Phosphate Uridylyltransferase Deficiency

Galactosemia

Galactosemia 2

Galactosemia 2s

Galactosemia 3

Galactosemia 3s

Galactosemia III

Galactosemia IIIs

Galactosemia, Classic

Galactosemia, Epimerase Deficiency

Galactosemias, Classic

Galactosemias, Epimerase Deficiency

Hereditary Galactokinase Deficiencies

Hereditary Galactokinase Deficiency

UDP Galactose 4 Epimerase Deficiency

UDP Galactose 4 Epimerase Deficiency Disease

UDP-Galactose-4-Epimerase Deficiencies

UDP-Galactose-4-Epimerase Deficiency

UDP-Galactose-4-Epimerase Deficiency Disease

UDP-Galactose-4-Epimerase Deficiency Diseases

UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency

UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency

UDPglucose 4 Epimerase Deficiency Disease

UDPglucose 4-Epimerase Deficiency Disease

UTP Hexose 1 Phosphate Uridylyltransferase Deficiency

UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease

UTP Hexose-1-Phosphate Uridylyltransferase Deficiency

UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease

Uridyltransferase Deficiencies, Galactose-1-Phosphate

Uridyltransferase Deficiency, Galactose-1-Phosphate

Uridylyltransferase Deficiencies, Galactose-1-Phosphate

Uridylyltransferase Deficiency, Galactose-1-Phosphate

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)

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