loading...| Preferred Name |
Galactosemia |
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| Synonyms |
Galactosemia (disorder) GALACTOSE INTOLERANCE Galactosaemia Galactosemias Galactosemias [Disease/Finding] galactosemia |
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| Definitions |
[NCIt Definition]: An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure. [MSH Definition]: 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) [CSP Definition]: Group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts. |
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| ID |
http://pat.nichd.nih.gov/maternalconditions/C0016952 |
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| Definition |
[NCIt Definition]: An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure. [MSH Definition]: 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) [CSP Definition]: Group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts. |
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| External Source |
https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C0016952 |
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| Label |
Galactosemia |
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| notation |
C0016952 |
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| PAT ID |
C0016952 |
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| prefLabel |
Galactosemia |
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| Sub Class Of | ||
| Synonyms |
Galactosemia (disorder) GALACTOSE INTOLERANCE Galactosaemia Galactosemias Galactosemias [Disease/Finding] galactosemia |