Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classical galactosemia), galactokinase (GALK), or UDP-galactose-4 epimerase (GALE). Of the three, GALT deficiency is the most severe and results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary, and kidney. In GALK deficiency, ingested ga...

Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The unique pathophysiology of clas...

PURPOSE In this article, the authors address the hypothesis that the severe and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for childhood apraxia of speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia and inform explanatory perspectives on CAS in ne...

Each one of the approximately 75,000 babies born each year in Missouri is tested for galactosemia, a genetic disorder of galactose metabolism caused by deficient activity of the enzyme galactosephosphate uridyltransferase (GALT). With early identification and a switch to a lactose-galactose restricted diet, complications of liver failure, sepsis, neonatal death, and mental retardation can be pr...

Galactosemia is a rare autosomal recessive disorder due to a deficiency of galactose-1-P:uridyl transferase (GALT) (classical galactosemia), galactokinase (GALK), or UDP-galactose-4 epimerase (GALE). Of the three, GALT deficiency is the most severe and results in the accumulation of galactose-1-P in tissues, which damages the liver, eye, brain, ovary, and kidney. In GALK deficiency, ingested ga...

Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic galactosemia. No other common presenting features were observed in this infant except cataract on sli...

Galactose in serum and galactose-1-phosphate in erythrocytes were measured in six transferase deficient children to determine if these metabolites could be used in detecting transferase deficient galactosemia. In all six children the galactose levels were normal and the galactose-1-phosphate elevated. The galactose level depends on diet and the rate of metabolism to galactose-1-phosphate and, t...

BACKGROUND Galactosemia due to complete or near-complete galactose-1-phosphate uridyltransferase (GALT) deficiency was the first disorder added to the pioneering newborn screening panel besides phenylketonuria. In the last 50 years, many criticisms have been focused on the opportunity of its inclusion. Consequently, long-term single center experiences with this issue are generally lacking. ME...

To determine the incidence of galactosemia (GAL) in the Philippines and to determine whether newborn screening for GAL is cost-beneficial from a societal perspective, cost-benefit analysis was performed. Newborn screening for GAL was done after the 24th hour of life using the Beutler test. Patients screened positive were recalled for confirmatory testing. Using incidence rates obtained from the...

Classical Galactosemia is an autosomal recessive disorder of galactose metabolism caused by severe reduction or absence of the galactose-1-phosphate uridyl transferase (GALT) enzyme. Till date, no reports are available on clinical and molecular spectrum of galactosemia from Indian population. The characterization of underlying GALT gene lesions was performed in 55 unrelated galactosemia patient...