NBCD - MNT: Metabolic Disorders (copy)

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