Biomaterial Database

Disorders of carbohydrate metabolism. 1981

P J Howanitz, and J H Howanitz

UI	MeSH Term	Description	Entries
D007003	Hypoglycemia	A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.	Fasting Hypoglycemia,Postabsorptive Hypoglycemia,Postprandial Hypoglycemia,Reactive Hypoglycemia,Hypoglycemia, Fasting,Hypoglycemia, Postabsorptive,Hypoglycemia, Postprandial,Hypoglycemia, Reactive
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D001786	Blood Glucose	Glucose in blood.	Blood Sugar,Glucose, Blood,Sugar, Blood
D002239	Carbohydrate Metabolism, Inborn Errors	Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.	Carbohydrate Metabolism, Inborn Error
D004700	Endocrine System Diseases	Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.	Endocrine Diseases,Diseases of Endocrine System,Disease, Endocrine,Disease, Endocrine System,Diseases, Endocrine,Diseases, Endocrine System,Endocrine Disease,Endocrine System Disease,System Disease, Endocrine,System Diseases, Endocrine
D005632	Fructose	A monosaccharide in sweet fruits and honey that is soluble in water, alcohol, or ether. It is used as a preservative and an intravenous infusion in parenteral feeding.	Levulose,Apir Levulosa,Fleboplast Levulosa,Levulosa,Levulosa Baxter,Levulosa Braun,Levulosa Grifols,Levulosa Ibys,Levulosa Ife,Levulosa Mein,Levulosado Bieffe Medit,Levulosado Braun,Levulosado Vitulia,Plast Apyr Levulosa Mein,Levulosa, Apir,Levulosa, Fleboplast
D005633	Fructose Intolerance	An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.	ALDOB Deficiency,Aldolase B Deficiency,Fructose Aldolase B Deficiency,Fructose Intolerance, Hereditary,Fructose-1,6-Biphosphate Aldolase Deficiency,Fructose-1,6-Bisphosphate Aldolase B Deficiency,Fructose-1-Phosphate Aldolase Deficiency,Fructosemia,Hereditary Fructose Intolerance,ALDOB Deficiencies,Aldolase B Deficiencies,Aldolase Deficiencies, Fructose-1,6-Biphosphate,Aldolase Deficiencies, Fructose-1-Phosphate,Aldolase Deficiency, Fructose-1,6-Biphosphate,Aldolase Deficiency, Fructose-1-Phosphate,Deficiencies, ALDOB,Deficiencies, Aldolase B,Deficiencies, Fructose-1,6-Biphosphate Aldolase,Deficiencies, Fructose-1-Phosphate Aldolase,Deficiency, ALDOB,Deficiency, Aldolase B,Deficiency, Fructose-1,6-Biphosphate Aldolase,Deficiency, Fructose-1-Phosphate Aldolase,Fructose 1 Phosphate Aldolase Deficiency,Fructose 1,6 Biphosphate Aldolase Deficiency,Fructose 1,6 Bisphosphate Aldolase B Deficiency,Fructose Intolerances,Fructose Intolerances, Hereditary,Fructose-1,6-Biphosphate Aldolase Deficiencies,Fructose-1-Phosphate Aldolase Deficiencies,Fructosemias,Hereditary Fructose Intolerances,Intolerance, Fructose,Intolerances, Fructose
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
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
D006706	Homeostasis	The processes whereby the internal environment of an organism tends to remain balanced and stable.	Autoregulation