Diseases Flashcards
Insulin Excess
excess insulin leads to excess cellular glucose intake, hypoglycemia.
KETOACIDOSIS, hunger anxiety tachycardia tachypnea, dry mouth, clammy skin, lethargy confusion seizures.
treat with glucose.
Insulin Defect
too little or defective insulin leads to insufficient cellular intake of glucose, hyperglycemia.
EXCESS URINATION excess thirst, hunger, shaking, headaches, hypotension, tachypnea, ketoacidosis, confusion, seizures.
treat with insulin.
Infant of Diabetic Mother
Had consistent hyperglycemia in utero. Insulin stays high, glucose doesn’t.
FAT BABY, rapid hypoglycemia after birth, enlarged heart, seizures
treat with early frquent feeding, IV glucose
Infant of Malnourished Mother
born with insufficient fat and glycogen stores or muscle for gluconeogenesis leads to hypoglycemia.
WASTING, distress, hypoglycemia
Treat with early frequent feeding, IV glucose
Dietary Lactose Intolerance
intestinal lactase deficiency leads to lactose malabsorption.
Osmotic diarrhea w/lactose consumption.
Treat w/ diet.
Dietary Fructose intolerance
GLUT5 deficiency: fructose transport in intenstine.
Osmotic diarrhea, bloating.
Treat w/diet.
Inheritance of all carbohydrate metabolism diseases
autosomal recessive.
Glucose-Galactose malabsorption
SGLT1 deficiency
GLUCOSE in urine, diarrhea, acidosis, kidney stones, hypoglycemia
treat w/Ross carbohydrate formula + fructose.
HFI
Hereditary Fructose Intolerance
F-1-P aldolase (aldolase B) deficiency. Can’t convert F-1-P to GA3P and DHAP
HYPOGLYCEMIA after eating/drinking fructose, diaphoresis, seizures, abdominal symptoms, liver failure
avoid fructose, give IV glucose.
Galactosemia
1-P-uridyl transferase deficiency. Galactose can’t convert to Gal-1-P. Galactitol accumulates.
CATARACTS, liver and neuronal disease, sepsis, retardation.
Avoid galactose (esp. dairy, breast milk.) Use soy instead.
Most common carb metabolism disorder. NORMOGLYCEMIA, can become hypo.
GSD 0
Glycogen synthetase deficiency. UDP glucose accumulates, abnormal glycogen builds up in liver
enlarged liver, low glycogen stores, sweaty, sleepy.
treat w/frequent feeding, IV glucose
GSD 1
Von Gierke’s Disease, G-6-Pase deficiency, can’t export glucose from liver.
DOLL-LIKE FACES, SHORT STATURE, ENLARGED LIVER due to glycogen in cytosol, hypoglycemia, cold sweat, lactic acidosis, lipid abnormality.
treat w/frequenct feeding, glucose, slow release sugar
Fructose-1,6-diphosphotase deficiency
F-1,6-diP can’t go to F-6-P. Leads to problems in gluconeogenesis as F-1,6-diP builds up in liver, inhibits gluconeogenesis and glycogenolysis
KETONURIA, stomache ache vomiting acidosis, hypoglycemia AFTER FAST
treat w/ frequent feeding, monitoring for ketones.
Lactic Acidosis
Pyruvate carboxylase (–> OAA) or pyruvate dehydrogenase (–> acetyl CoA) deficiency. Excess lactate from fermentation. fats are broken to ketone bodies, –> more acidosis.
NOISY FAST BREATHING, fatigue, nausea, cardiomegaly, hypotonia
