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Galactosemias (Galactosemia)

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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)

Also Known As:

Galactosemia; UTP Hexose-1-Phosphate Uridylyltransferase Deficiency; Classic Galactosemia; Galactose 1 Phosphate Uridyl Transferase Deficiency Disease; UDP Galactose 4 Epimerase Deficiency Disease; Galactokinase Deficiency Disease; Deficiency Disease, Galactokinase; Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase; Deficiency Disease, UDP-Galactose-4-Epimerase; Deficiency Disease, UDPglucose 4-Epimerase; Galactose Epimerase Deficiency; Galactose-1-Phosphate Uridyltransferase Deficiency; Galactosemia 3; Galactosemia, Classic; UDP-Galactose-4-Epimerase Deficiency; UDP-Galactose-4-Epimerase Deficiency Disease; UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease; Classic Galactosemias; Deficiencies, Galactose Epimerase; Deficiencies, Galactose-1-Phosphate Uridyltransferase; Deficiencies, UDP-Galactose-4-Epimerase; Deficiencies, UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase; Deficiency Disease, UDP Galactose 4 Epimerase; Deficiency Disease, UDPglucose 4 Epimerase; Deficiency Diseases, UDP-Galactose-4-Epimerase; Deficiency, Galactose Epimerase; Deficiency, Galactose-1-Phosphate Uridyltransferase; Deficiency, UDP-Galactose-4-Epimerase; Deficiency, UDPglucose-Hexose-1-Phosphate Uridylyltransferase; Galactokinase Deficiency Diseases; Galactose 1 Phosphate Uridyltransferase Deficiency; Galactose Epimerase Deficiencies; Galactose-1-Phosphate Uridyltransferase Deficiencies; Galactosemia 3s; Galactosemias, Classic; UDP Galactose 4 Epimerase Deficiency; UDP-Galactose-4-Epimerase Deficiencies; UDP-Galactose-4-Epimerase Deficiency Diseases; UDPglucose 4 Epimerase Deficiency Disease; UDPglucose Hexose 1 Phosphate Uridylyltransferase Deficiency; UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiencies; 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, UDPglucose-Hexose-1-Phosphate; Uridylyltransferase Deficiency, UDPglucose-Hexose-1-Phosphate; Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease; UDPglucose 4-Epimerase Deficiency Disease; UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency

Networked: 648 relevant articles (8 outcomes, 49 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Homocystinuria
2.	Tyrosinemias (Tyrosinemia)
3.	Fructose Intolerance (Intolerance, Fructose)
4.	Maple Syrup Urine Disease
5.	Congenital Disorders of Glycosylation

Experts

1.	Fridovich-Keil, Judith L: 27 articles (06/2015 - 01/2005)
2.	Berry, Gerard T: 16 articles (01/2015 - 01/2004)
3.	Timson, David J: 13 articles (11/2014 - 04/2003)
4.	Segal, Stanton: 10 articles (05/2008 - 01/2002)
5.	Rubio-Gozalbo, M Estela: 9 articles (03/2015 - 11/2006)
6.	Segal, S: 9 articles (08/2001 - 02/2000)
7.	Lai, Kent: 8 articles (02/2015 - 07/2004)
8.	Elsas, L J: 8 articles (12/2010 - 03/2000)
9.	Yager, Claire: 8 articles (07/2010 - 01/2002)
10.	Berry, G T: 8 articles (08/2001 - 08/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Galactosemias:

1.	UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA 03/01/2010 - "Availability of the galactose-1-phosphate uridyltransferase (GALT) assay for newborn (NB) screening has improved identification of classic galactosemia. " 02/01/2000 - "A study of the galactose-1-phosphate uridyltransferase (GALT) gene from 37 unrelated galactosemia families is reported here. " 08/01/1994 - "This study was conducted to determine whether there is a genotype/phenotype correlation between aspects of cognitive, neurologic, and ovarian outcome in patients with galactosemia and the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. " 01/01/1978 - "This study was designed to determine the activity of galactose-1-phosphate uridyltransferase enzyme in a family (parents and eight children): four of these with clinical diagnosis of classical galactosemia. " 01/01/2014 - "Classic galactosemia (OMIM #230400) is an autosomal recessive metabolic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) protein due to mutations in the GALT gene. "
2.	Galactose (Galactopyranose)FDA LinkGeneric 06/01/1996 - "Galactose-restricted dietary treatment, the only therapy used in galactosemia, brings considerable improvement, especially in the neonatal period. " 03/01/2015 - "In sick children, the cumulative percentage of (13)C from labeled galactose (CUMPCD) in the exhaled air ranged from 0.03% at 30 min to 1.67% at 120 min. In contrast, healthy subjects showed a much broader range in CUMPCD, with values from 0.4% at 30 min to 5.58% at 120 min. The study found a significant difference in galactose oxidation between children with and without galactosemia, demonstrating that the breath test is useful in discriminating children with GALT deficiencies." 10/03/2007 - "This study provides additional information on the range of free galactose in fruits and vegetables which will allow individuals with galactosemia to make more informed dietary choices." 06/01/2004 - "Assuming that there may be more extensive oxidation than that observed in short-term studies in order to dispose the daily galactose burden, we have examined the amount of [1-13C]galactose oxidized to 13CO2 over a 24-h period after either a single bolus or continuous IV administration by 11 patients with classic galactosemia including patients homozygous for the Q188R gene mutation. " 06/01/2004 - "Extended [13C]galactose oxidation studies in patients with galactosemia."
3.	galactose-1-phosphateIBA 02/01/2012 - "This paper provides information on the measurement of Galactose-1-phosphate levels that can be very useful for the management of classical galactosemia." 02/10/2005 - "Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia-related mutant Q188R provide an explanation of molecular effects of the mutation on homo- and heterodimers." 01/01/1996 - "This paper will review research done in our laboratory using a yeast expression system to study the human protein galactose-1-phosphate uridylyltransferase, associated with galactosemia, as well as highlighting some of the advantages of this model system." 06/15/2015 - "Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound loss of galactose-1-phosphate uridylyltransferase (GALT). " 09/01/2014 - "Here, we present a new version of GALT Protein Database, a Web-accessible data repository for the storage and interrogation of structural effects of variations of the enzyme galactose-1-phosphate uridylyltransferase (GALT), the impairment of which leads to classic Galactosemia, a rare genetic disease. "
4.	Pyruvic Acid (Pyruvate)IBA 04/01/1999 - "Since pyruvate, being a normal tissue metabolite, is likely to be non-toxic, the findings are considered useful for further pharmacological studies with this and other similar metabolites, relevant to protection against various secondary complications of diabetes and galactosemia." 07/01/2011 - "Oral or topical application of pyruvate has been found to inhibit the formation of cataracts induced by diabetes and galactosemia. "
5.	CarbohydratesIBA 05/01/1992 - "An abnormality in galactosylation of complex carbohydrates may be important in the pathogenesis of the long-term complications of classic (galactose-1-phosphate uridyltransferase-deficient) galactosemia. " 05/01/1992 - "Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency." 06/30/1986 - "Examples of the profiling of sugars/polyols in the plasma, unwashed and washed erythrocytes of a healthy adult, and the plasma of a newborn with galactosemia prior to treatment, are given." 05/01/1974 - "Letter: Negative urine sugars in galactosemia." 06/19/1971 - "Screening for abnormal sugars in the blood has disclosed two cases of galactosemia. "
6.	Hemoglobins (Hemoglobin)IBA 11/25/1983 - "[Non-enzymatic glycosylation of hemoglobin and serum protein in children with galactosemia]." 09/01/1981 - "Hemoglobin A1 in galactosemia, a possible role in monitoring dietary compliance." 04/01/1981 - "Denaturation of hemoglobin was accomplished by exposing the blood disc to a vapor of formic acid in an air-tight container; this procedure completely eliminated false positive cases of galactosemia. " 05/01/1996 - "Erythrocyte and retinal galactose and glycated (galactosylated) hemoglobin were elevated with galactosemia and were unaffected by ARI treatment. " 03/01/1995 - "Consumption of the galactose-rich diet resulted, as expected, in galactosemia evident by elevated hemoglobin A1, plasma nonenzymatically glycated protein, and erythrocyte polyol concentrations, each of which decreased to normal levels following withdrawal of dietary galactose. "
7.	Coenzyme A (CoA)IBA 05/01/2008 - "Were obtained seven positive results, one for each disorder: homocystinuria, hyperphenylalaninemia, citrulinemia, transient tyrosinemia, 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl CoA deficiency, and classic galactosemia. "
8.	formic acid (formate)IBA 04/01/1981 - "Denaturation of hemoglobin was accomplished by exposing the blood disc to a vapor of formic acid in an air-tight container; this procedure completely eliminated false positive cases of galactosemia. "
9.	methylcrotonoyl-CoA carboxylaseIBA 05/01/2008 - "Were obtained seven positive results, one for each disorder: homocystinuria, hyperphenylalaninemia, citrulinemia, transient tyrosinemia, 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl CoA deficiency, and classic galactosemia. "
10.	A 7 (A-7)IBA 12/01/1995 - "Patients with galactosemia who have barely detectable or absent galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes and are homoallelic for the Q188R gene mutation, when given a 7 mg/kg intravenous bolus had barely detectable 13CO2 in air samples in the first hour, but eventually eliminated as much as 3.6% of the dose in 5 h. "

Therapies and Procedures

1.	Oral Administration 08/25/1958 - "[Preliminary studies of total blood sugar, galactosemia and glucosemia after oral administration of lactose in premature newborn and in infants several months old]."
2.	Erythrocyte Transfusion 02/01/1990 - "Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion." 02/01/1989 - "Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion." 02/01/2000 - "Erythrocyte transfusion can impair detection of sickle-cell disease, galactosemia, or biotinidase deficiency with newborn screening. "
3.	Drug Therapy (Chemotherapy) 06/15/1999 - "In chromosome X abnormalities, chemotherapy, galactosemia and blepharophimosis syndrome apoptosis is increased. " 04/01/2012 - "Patients excluded were smokers, with galactosemia or ovarian cysts, with antecedents of liver disease, ovarian surgeries or who were treated with chemotherapy or radiotherapy. " 10/01/2002 - "Ovarian insufficiency can occur by three mechanisms: reduction in the primary follicles reserve (ataxia-telangiectasy), follicular maturation blocking (modification of the genes GDF-9 and GDF-9B, null mutation of FSH receptor gene, auto-immune polyglandular disease, PBE syndrome), or apoptosis acceleration (chemotherapy, smoking, galactosemia, Turner's syndrome). "
4.	Diet Therapy (Therapy, Diet) 06/01/1997 - "There is a need for new approaches to treatment, in combination with diet therapy, that could improve the outcome of patients with galactosemia." 04/01/2006 - "Measurements of urine galactitol have been used to monitor the adequacy of diet therapy in the treatment of galactosemia. " 01/01/2002 - "We prepared trimethylsilyl (TMS) derivatives and used alpha-D-[2-(13)C]Gal-1-P as the internal standard for GC/MS. Results obtained with this method were compared with those determined by the established enzymatic method for samples from 23 healthy individuals (11 children and 12 adults), 9 suspected patients with galactosemia, 12 galactosemic patients on diet therapy, and 2 newly diagnosed toxic neonates. "
5.	Blood Transfusion (Blood Transfusions) 08/07/1971 - "Liver failure in galactosemia successfully treated by exchange blood transfusion." 02/01/1989 - "Newborn galactosemia screening programs using the fluorescence spot test to detect red cell galactose-1-phosphate uridyltransferase activity are prone to inaccuracy if the screened infants have received blood transfusions. "