Hypoglycemia
abnormally low level of sugar in the blood that occurs when the body utilized glucose too rapidly, rate of release of glucose falls behind tissue demands, or excess insulin enters the bloodstream
Reactive Hypoglycemia/ Functional Hypoglycemia
May occur in DM px due to administration of too much insulin or oral diabetes medication; may also occur to non-DM px due to a sharp increase in insulin release after a meal; may be assoc with dumping syndrome after a gastric surgery
Dietary mgt of reactive hypoglycemia
SFF, frequent meals of complex CHO, fiber, and a protein source
Fasting hypoglycemia/ Post-absorptive hypoglycemia
Decrease in blood sugar due to insulin overdose, alcohol, tumor, hepatic disease, or chronic renal insufficiency; this happens when the body fails to maintain adequate blood glucose level after a period of no intake
neuroglycopenia
deficiency of sugar that interferes with normal brain activity; a symptom of fasting hypoglycemia
High CHO
Dietary management of Fasting Hypoglycemia to increase the blood sugar level
Inborn Errors of Metabolism (IEM)
A group of congenital conditions that cause either accumulation of toxins or disorders of energy metabolism in the neonate due to defective enzymes. These conditions are characterized by an infant's failure to thrive and by vague signs such as poor feeding.
hyperthyroidism/ grave's disease
Abnormally high secretion of thyroxine— the hormone that regulates BMR
Characteristics of hyperthyroidism
Wt loss, engorgement of the eyes, protrusion of the thyroid gland, increased appetite, increased BMR (at least 50%), heat intolerance
exophthalmos
abnormal protrusion of the eyeball in hyperthyroidism
Thyroid crisis (storm)
A severe state of hyperthyroidism that can be life-threatening. It is characterized by high body temperature, rapid heart rate, high blood pressure, gastrointestinal symptoms (abdominal pain, vomiting, diarrhea), agitation, tremors, confusion, seizures, and possibly coma.
High kcal diet
Diet order for patients with hyperthyroidism Because of increased BMR
Low iodine diet, caffeine may be restricted or avoided
Diet reco for hyperthyroidism
Methimazole
Used to treat hyperthyroidism; an anti-thyroid drug
Hypothyroidism
condition of hyposecretion of the thyroid gland causing low thyroid levels in the blood due to lack of iodine; result in sluggishness, slow pulse, and often obesity
Characteristics of hypothyroidism
Decreased BMR (30-40%); wt gain; puffy face, eyelids, hands; muscular flabbiness; fatigue; cold tolerance
myxedema
caused by extreme deficiency of thyroid secretion; also known as adult hypothyroidism
Cretinism
condition of congenital hypothyroidism in children that results in a lack of mental development and dwarfed physical stature; the thyroid gland is either congenitally absent or imperfectly developed
Iodine
Vitamin provided for hypothyroidism px to stimulate secretion of thyroxine by the thyroid hormones
Low calorie diet
Diet order for patients with hypothyroidism to prevent wt gain due to low BMR
parathormone (PTH)
Hormone secreted by the parathyroid glands; increases blood calcium
Hyperparathyroidism
Hypersecretion of parathyroid hormone characterized by hypercalcemia. Manifestations: nausea, irritability, vomiting, osteoporosis, lethargy, kidney stones, and constipation
Phosphate binders, high fluid, Na (infused IV)
Diet order for hyperparathyroid px to lower Ca levels, prevent formation of Ca-containing renal stones, to promote renal clearance, and Ca excretion
Acid ash diet
Diet which acidifies urine, and prevents Ca-stone formation -- presribed to patients with hyperparathyroidism; oxalate does not thrive in acid environment
PO4
Promotes deposition of Ca into the skeleton
Hypoparathyroidism
hyposecretion of parathyroid hormone; may result in hypocalcemia and tetany. Manifested by convulsions, cramps, muscle twitching and spasms
High calcium, high vitamin D, low Phosphorus
Dietary managment of hypoparathyroidism to normalize calcium levels and to increase Ca absorption, to prevent hyperphosphatemia/ phosphate tends to bind w/ Ca to inhibits absorption
Tetany
hyperirritability of muscles causing a spasm-like condition; usually the result of a lack of calcium
Positive Chvostek's sign
Tapping a client's jaw causes facial spasm; found in hypoparathyroidism px
Trousseau's sign
Spasms in the hand when BP cuff is inflated; found in hypoparathyroid client
Hyperthyroidism & Hypoparathyroidism
Thyroid issues which have diarrhea as their GI problem
Hypothyroidism & Hyperparathyroidism
Thyroid issues which have constipation as their GI problem
Iron-restricted diet
Diet order for patients with hemochromatosis
Addison's disease
A condition that occurs when the adrenal glands do not produce enough cortisol or aldosterone - weight loss, asthenia, hyponatremia, hyperkalemia, hypoglycemia, and hypotension occur
Aldosterone
A mineralcortocoid produced by the adrenal cortex that promotes sodium and water reabsorption by the kidneys and potassium excretion in urine.
Cortisol
stress hormone released by the adrenal cortex that stimulates gluconeogenesis; increases protein breakdown >> elevating serum protein levels; increases mobilization and use of FAs; stimulates anti-inflamm process
Asthenia
Abnormal physical weakness
High sodium, low potassium
Mineral recommendations for patients with Addison's disease to increase the level of Na/ to prevent sodium wasting and to control hyperkalemia
Glucocorticoids
raises blood sugar levels; in low supply to px of Addison's disease
High kcal
Calorie recommendation for underweight patients with Addison's disease because of wt loss due to low supply of glucocorticoids
Cushing's disease
Hypersecretion of the adrenal cortex causing weight gain but w/ muscle wasting; red cheeks, moon face; hypokalemia; hyperglycemia; hypernatremia, edema, hypertension, low Ca levels, delayed wound healing
Low Na, fluid-restriction, High K
Mineral recommendations for patients with Cushing's disease to control edema and hypertension and to prevent hypokalemia
Low kcal
Calorie recommendation doe obese patients with Cushing's disease
Wilson's Disease
Inability of the body to metabolize copper because of lack of ceruloplasmin (transport protein of Copper)
Copper-restricted diet
Diet order for patient's with Wilson's disease to prevent Cu rentention
Hemochromatosis
A disorder in iron metabolism. It is the deposition of hemosiderin in liver and spleen resulting to bronzed skin
Low Fe-diet
Dietary management for hemochromatosis
Immune complex
Combination of antibody and soluble antigen capable of triggering the classical pathway of complement system activation; in GN, this maybe trapped in glomerulus, causing damage by attracting WBC releasing lysosomal enzymes.
Newborn Screening
Tests used to screen newborn infants for a range of genetic and non-genetic disorders; a procedure to id metabolic congenital disorders that may lead to mental retardation, metabolic complications and even death; usually taken within 24 hrs
1. CH - Congenital hypothyroidism
2. CAH - Congenital Adrenal Hyperplasia
3. GAL - Galactosemia
4. PKU - Phenylketonuria
5. G6PD - Glucose-6-Phosphate-dH Deficiency
6. MSUD - Maple Syrup Urine Disease
6 disorders to test for during Newborn Screening
28 disorders (22 more + 6 original)
Inborn errors in neonatal screening
Garrod's hypothesis
A -----> B ---X---> C
`---->D
that a gene dictates the production of a specific enzyme
If the enzyme to convert a substrate is missing, there can either be product deficiency, substrate excess, or production of toxic metabolite
Phenylketonuria
A genetic disorder in which the essential digestive enzyme phenylalanine hydroxylase (PAH) is missing that converts Phe to Tyr; Phe buildup, Tyr deficiency. Symptoms: mental retardation, lack of pigmentation, apathy, poor physical development, death
Phenylalanine-restricted diet
Diet which restricts intake of high protein foods for PKU infants
Lofenalac
Infant formula with 95% of phenylalanine removed
2-6 mg/dL (120-360 umol/L)
Ideal blood Phe level
Aspartame (Nutrasweet)
Artificial sweetener that should be avoided by PKU px
Galactosemia
recessive genetic disorder; characterized by body's inability to metabolize galactose into glucose due to the absence of galactose-1-phosphate uridyl transferase. Symptoms: lactose intolerance, growth failure, liver enlargement, neurologic abnormalities
Lactose free formula
Formula provided for infants with galactosemia
Dates, papaya, watermelon, bell pepper, tomato
Foods high in galactose (>10mg/100g fresh wt)
Maple Syrup Urine Disease (MSUD)
A genetic disorder characterized by the inability to metabolize branched-chain amino acids; symptoms include a maple syrup smell in the urine.
Leucine, Isoleucine, Valine
BCAAs
BCAA-free formula
Commercial formula provided to patients with MSUD
Leu: 75 - 200 umol/L
ile and val: 200 - 400 umol/L
Idea range of blood BCAAs
Alpha-keto decarboxylase
Defective enzyme in MSUD
G6PD deficiency
Low NADPH leads to hemolytic anemia (free radicals) with bite cells and heinz bodies
Fava beans, sulfonamides, primiquine, dapsone to be avoided
X-linked recessive
Fava beans
Triggers hemolysis of RBC and must be avoided by G6PD px
congenital adrenal hyperplasia (CAH)
A genetic disorder in which, beginning in prenatal development, the adrenal glands secrete large amounts of androgen; salt is lost in the urine
Down Syndrome (Trisomy 21)
A genetic disorder caused by a trisomy of the twenty-first chromosome; associated with growth and mental retardation, pooor suck and swallow during infancy, poor lip and tongue control
Fetal alcohol syndrome (FAS)
Physical and cognitive abnormalities in children caused by a pregnant woman's heavy drinking. In severe cases, symptoms include noticeable facial misproportions.
homocystunuria
A disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine.
cystathionine synthase
Turns homocysteine into cystationine via B6. Then turns into cysteine.
L-cysteine
Amino acid supplemented to patients with homocystinuria
Low protein, low Met diet, with added L-cystine
Diet order for homocystinuria
Tyrosinosis
A rare, inherited disorder of tyrosine metabolism caused by defects in p-hydroxyphenylpyruvic acid oxidase
Phenylalanine and tyrosine
Amino acids decreased for patients with tyrosinosis
Urea cycle disorders
A group of congenital disorders caused by enzyme or transporter deficiencies that impair the conversion of ammonia to urea
Low protein, ketoacid mixture, sodium benzoate, hemo or PD
Diet order for UCD px
Sodium benzoate
Substance infused to patients with UCD to treat and prevent hypereammonemia
Arginine
Amino acid supplemented to patients with Citrullinemia and Arginosuccinicaciduria
Galactokinase deficiency
Hereditary deficiency of galactokinase. Galactitol accumulates if galactose is present in diet.
Symptoms: galactose appears in blood and urine, infantile cataracts. May present as failure to track objects or to develop a social smile.
Galactose and lactose-free formula
Formula fed to patients with galactokinase deficiency
Fructose-1,6-bisphosphatase deficiency
Impairs the formation of glucose from all gluconeogenic precursors --> normoglycemia is dependent on glucose intake and on degradation of hepatic glycogen
Presentation: Hypoglycemia and severe lactic acidosis for the first few days of life
Fructose, sucrose, and sorbitol
Sugars to be avoided in fructose bisphosphatase deficiency
Glycogen storage disease (GSD)
A metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis, typically within muscles and/or liver cells
Prader-Willi Syndrome
Caused by a lack of genetic material in the 15 pair of chromosomes. Usually inherited from the father. The leading genetic cause of obesity. Patients experience hyperphagia leading to excessive eating and life-threatening obesity.
Gavage feeding (breastmilk directly to the stomach); supplementation
Dietary treatment for Prader-Willi Syndrome
Hydrolyzed formula
Enteral nutrition support provided to patients with SBS