2006 ICD-9-CM Volume 1 Diagnosis Codes Home > Endocrine, Nutritional And Metabolic Diseases, And Immunity Disorders 240-279 > Other Metabolic Disorders And Immunity Disorders 270-279 > Disorders Of Carbohydrate Transport And Metabolism 271.* > 2006 ICD-9-CM Diagnosis 271.1 Galactosemia View the most recent version of ICD-9-CM 271.1 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. 271.1 is a specific code that can be used to specify a diagnosis 271.1 contains 6 index entries View the ICD-9-CM Volume 1 271.* hierarchy Alternate Terminology Galactose-1-phosphate uridyl transferase deficiency Galactosuria  Index entries containing 271.1: Deficiency, deficient galactokinase 271.1 galactose-1-phosphate uridyl transferase 271.1 Disorder - see also Disease metabolism NEC 277.9 galactose-1-phosphate uridyl transferase 271.1 Galactosemia (classic) (congenital) 271.1 Galactosuria 271.1 Malabsorption 579.9 galactose 271.1