About: Hereditary Fructose Intolerance

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About: Hereditary Fructose Intolerance Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	Class
rdfs:label	Hereditary Fructose Intolerance
rdfs:subClassOf	Metabolism, Inborn Errors Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Metabolism, Inborn Errors Autosomal Recessive Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Hereditary Fructose Intolerance
UMLS_CUI	C0016751
Contributing_Source	NICHD
FULL_SYN	Fructose-1,6-Bisphosphate Aldolase B DeficiencySYNCI Fructose-1,6-Bisphosphate Aldolase B DeficiencyPTNICHD Fructose IntoleranceSYNCI Hereditary Fructose IntolerancePTNCI
DEFINITION	A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure.NCI
code	C84720

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