Galactosemias
"Galactosemias" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D005693
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MeSH Number(s) |
C10.228.140.163.100.320 C16.320.565.189.320 C16.320.565.202.355 C18.452.132.100.320 C18.452.648.189.320 C18.452.648.202.355
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Concept/Terms |
UDPglucose 4-Epimerase Deficiency Disease- UDPglucose 4-Epimerase Deficiency Disease
- UDPglucose 4 Epimerase Deficiency Disease
- Deficiency Disease, UDPglucose 4-Epimerase
- Deficiency Disease, UDPglucose 4 Epimerase
- Galactose Epimerase Deficiency
- Deficiencies, Galactose Epimerase
- Deficiency, Galactose Epimerase
- Galactose Epimerase Deficiencies
- UDP-Galactose-4-Epimerase Deficiency Disease
- UDP Galactose 4 Epimerase Deficiency Disease
- UDP-Galactose-4-Epimerase Deficiency
- Deficiencies, UDP-Galactose-4-Epimerase
- Deficiency, UDP-Galactose-4-Epimerase
- UDP Galactose 4 Epimerase Deficiency
- UDP-Galactose-4-Epimerase Deficiencies
- Deficiency Disease, UDP-Galactose-4-Epimerase
- Deficiency Disease, UDP Galactose 4 Epimerase
- Deficiency Diseases, UDP-Galactose-4-Epimerase
- UDP-Galactose-4-Epimerase Deficiency Diseases
- Galactosemia 3
- Galactosemia 3s
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease- Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
- Galactose 1 Phosphate Uridyl Transferase Deficiency Disease
- Galactose-1-Phosphate Uridyltransferase Deficiency
- Deficiencies, Galactose-1-Phosphate Uridyltransferase
- Deficiency, Galactose-1-Phosphate Uridyltransferase
- Galactose 1 Phosphate Uridyltransferase Deficiency
- Galactose-1-Phosphate Uridyltransferase Deficiencies
- Uridyltransferase Deficiencies, Galactose-1-Phosphate
- Uridyltransferase Deficiency, Galactose-1-Phosphate
- UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease
- UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease
- UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency
- Deficiencies, UDPglucose-Hexose-1-Phosphate Uridylyltransferase
- Deficiency, UDPglucose-Hexose-1-Phosphate Uridylyltransferase
- UDPglucose Hexose 1 Phosphate Uridylyltransferase Deficiency
- UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiencies
- Uridylyltransferase Deficiencies, UDPglucose-Hexose-1-Phosphate
- Uridylyltransferase Deficiency, UDPglucose-Hexose-1-Phosphate
- UTP Hexose-1-Phosphate Uridylyltransferase Deficiency
- UTP Hexose 1 Phosphate Uridylyltransferase Deficiency
- Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase
- Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase
- Galactosemia, Classic
- Classic Galactosemia
- Classic Galactosemias
- Galactosemias, Classic
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Below are MeSH descriptors whose meaning is more general than "Galactosemias".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Galactosemias [C10.228.140.163.100.320]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Galactosemias [C16.320.565.189.320]
- Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
- Galactosemias [C16.320.565.202.355]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Galactosemias [C18.452.132.100.320]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Galactosemias [C18.452.648.189.320]
- Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
- Galactosemias [C18.452.648.202.355]
Below are MeSH descriptors whose meaning is more specific than "Galactosemias".
This graph shows the total number of publications written about "Galactosemias" by people in this website by year, and whether "Galactosemias" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2002 | 0 | 1 | 1 |
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Below are the most recent publications written about "Galactosemias" by people in Profiles.
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Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R, Ingham CL, Korson M, Msall M, Pueschel S, Seashore M, Shih VE, Levy HL. Newborn screening compared to clinical identification of biochemical genetic disorders. J Inherit Metab Dis. 2002 Nov; 25(7):599-600.
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Macmahon HE. Biliary cirrhosis. Pathol Annu. 1973; 8:157-204.
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Huttenlocher PR, Hillman RE, Hsia YE. Pseudotumor cerebri in galactosemia. J Pediatr. 1970 Jun; 76(6):902-5.
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Silverberg M, Davidson M. Nutritional requirements of infants and children with liver disease. Am J Clin Nutr. 1970 May; 23(5):604-13.
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