Biomaterial Database

The Fanconi syndrome associated with hepatic glycogenosis and abnormal metabolism of galactose. 1974

R Garty, and M Cooper, and E Tabachnik

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007328	Insulin	A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).	Iletin,Insulin A Chain,Insulin B Chain,Insulin, Regular,Novolin,Sodium Insulin,Soluble Insulin,Chain, Insulin B,Insulin, Sodium,Insulin, Soluble,Regular Insulin
D008112	Liver Glycogen	Glycogen stored in the liver. (Dorland, 28th ed)	Hepatic Glycogen,Glycogen, Hepatic,Glycogen, Liver
D001786	Blood Glucose	Glucose in blood.	Blood Sugar,Glucose, Blood,Sugar, Blood
D005198	Fanconi Syndrome	A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.	De Toni-Debre-Fanconi Syndrome,Lignac-Fanconi Syndrome,Proximal Renal Tubular Dysfunction,Renal Fanconi Syndrome,Adult Fanconi Syndrome,Fanconi Bickel Syndrome,Fanconi Renotubular Syndrome,Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance,Fanconi Syndrome without Cystinosis,Fanconi-Bickel Syndrome,Glycogen Storage Disease XI,Glycogenosis, Fanconi Type,Hepatic Glycogenosis with Amino Aciduria and Glucosuria,Hepatic Glycogenosis with Fanconi Nephropathy,Hepatorenal Glycogenosis with Renal Fanconi Syndrome,Idiopathic De Toni-Debre-Fanconi Syndrome,Luder-Sheldon Syndrome,Neonatal De Toni-Debre-Fanconi Syndrome,Primary Toni-Debre-Fanconi Syndrome,Pseudo-Phlorizin Diabetes,Toni-Debre-Fanconi Syndrome,Bickel Syndrome, Fanconi,Diabete, Pseudo-Phlorizin,Diabetes, Pseudo-Phlorizin,Fanconi Syndrome, Adult,Fanconi Syndrome, Renal,Fanconi Type Glycogenosis,Fanconi-Bickel Syndromes,Lignac Fanconi Syndrome,Luder Sheldon Syndrome,Pseudo Phlorizin Diabetes,Pseudo-Phlorizin Diabete,Renotubular Syndrome, Fanconi,Syndrome, Adult Fanconi,Syndrome, Fanconi,Syndrome, Fanconi Bickel,Syndrome, Fanconi Renotubular,Syndrome, Fanconi-Bickel,Syndrome, Lignac-Fanconi,Syndrome, Luder-Sheldon,Syndrome, Renal Fanconi,Syndromes, Fanconi-Bickel
D005260	Female		Females
D005693	Galactosemias	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)	Galactokinase Deficiency Disease,Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease,UDPglucose 4-Epimerase Deficiency Disease,Classic Galactosemia,Deficiency Disease, Galactokinase,Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase,Deficiency Disease, UDP-Galactose-4-Epimerase,Deficiency Disease, UDPglucose 4-Epimerase,Epimerase Deficiency Galactosemia,GALE Deficiency,GALK Deficiency,GALT Deficiency,Galactokinase Deficiency,Galactose Epimerase Deficiency,Galactose-1-Phosphate Uridyltransferase Deficiency,Galactose-1-Phosphate Uridylyltransferase Deficiency,Galactosemia,Galactosemia 2,Galactosemia 3,Galactosemia III,Galactosemia, Classic,Hereditary Galactokinase Deficiency,UDP-Galactose-4-Epimerase Deficiency,UDP-Galactose-4-Epimerase Deficiency Disease,UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency,UTP Hexose-1-Phosphate Uridylyltransferase Deficiency,UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease,Classic Galactosemias,Deficiencies, GALE,Deficiencies, GALK,Deficiencies, GALT,Deficiencies, Galactokinase,Deficiencies, Galactose Epimerase,Deficiencies, Galactose-1-Phosphate Uridyltransferase,Deficiencies, Galactose-1-Phosphate Uridylyltransferase,Deficiencies, Hereditary Galactokinase,Deficiencies, UDP-Galactose-4-Epimerase,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 Galactosemia, Epimerase,Deficiency Galactosemias, Epimerase,Deficiency, GALE,Deficiency, GALK,Deficiency, GALT,Deficiency, Galactokinase,Deficiency, Galactose Epimerase,Deficiency, Galactose-1-Phosphate Uridyltransferase,Deficiency, Galactose-1-Phosphate Uridylyltransferase,Deficiency, Hereditary Galactokinase,Deficiency, UDP-Galactose-4-Epimerase,Epimerase Deficiency Galactosemias,GALE Deficiencies,GALK Deficiencies,GALT Deficiencies,Galactokinase Deficiencies,Galactokinase Deficiencies, Hereditary,Galactokinase Deficiency Diseases,Galactokinase Deficiency, Hereditary,Galactose 1 Phosphate Uridyl Transferase Deficiency Disease,Galactose 1 Phosphate Uridyltransferase Deficiency,Galactose 1 Phosphate Uridylyltransferase Deficiency,Galactose Epimerase Deficiencies,Galactose-1-Phosphate Uridyltransferase Deficiencies,Galactose-1-Phosphate Uridylyltransferase Deficiencies,Galactosemia 2s,Galactosemia 3s,Galactosemia IIIs,Galactosemia, Epimerase Deficiency,Galactosemias, Classic,Galactosemias, Epimerase Deficiency,Hereditary Galactokinase Deficiencies,UDP Galactose 4 Epimerase Deficiency,UDP Galactose 4 Epimerase Deficiency Disease,UDP-Galactose-4-Epimerase Deficiencies,UDP-Galactose-4-Epimerase Deficiency Diseases,UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency,UDPglucose 4 Epimerase Deficiency Disease,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, Galactose-1-Phosphate,Uridylyltransferase Deficiency, Galactose-1-Phosphate
D005951	Glucose Tolerance Test	A test to determine the ability of an individual to maintain HOMEOSTASIS of BLOOD GLUCOSE. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).	Intravenous Glucose Tolerance,Intravenous Glucose Tolerance Test,OGTT,Oral Glucose Tolerance,Oral Glucose Tolerance Test,Glucose Tolerance Tests,Glucose Tolerance, Oral
D006008	Glycogen Storage Disease	A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.	Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen
D006529	Hepatomegaly	Enlargement of the liver.	Enlarged Liver,Liver, Enlarged