Metabolic and Nutritional Disorders

Metabolic and Nutritional Disorders

Dr. Megan Gonzales ND, EAMPSIOM Fall 2012

Dr. Megan Gonzales ND, EAMPSIOM Fall 2012

A little differentA little different

n today we are going to do things a little differently, the “Food Therapy” class is going to be presented concurrent with the Western Clinical Sciences class.

n We’ll talk in the end about GI (other than Gallbladder) treatments.

Metabolic and Nutritional Disorders - why do we care?

Metabolic and Nutritional Disorders - why do we care?

n the basics - a bit of a review: do you all recall Catabolism and Anabolism?

n Carbohydrates

n Fats

n Proteins

Fluid and Electrolyte Balance

Fluid and Electrolyte Balance

n Water

n Body fluid: intracellular, extracellular

n Types of dissolved substances:

n Homeostasis? What is that?

pH balancepH balance

n this is maintained primarily through the bicarbonate/carbonic acid interchange

n Recall the extracellular fluid pH about 7.4 very important for systemic function

n If there is an increase in acid that causes “acidosis” if there is a decrease in acid that causes “alkalosis”

Vitamin A deficiencyVitamin A deficiency

n We know...vitamin A is fat soluble, absorbed in the GI and stored in the liver.

n Causes: frequently due to lack of adequate consumption. Malabsorption - name some conditions. Urinary excretion - UTI, pneumonia, TB, cancer.

n Complications of severe deficiency - corneal damage

n S/Sx: night blindness, xerophthalmia (conjunctival dryness)and grey plaques. Keratinization: dry, scaly skin with plaques and follicular hyperkeratosis and drying/shrinking of mucous membranes increasing likelihood of infections.

n Diagnosis: dietary history, ocular lesions can check serum vitamin A levels. A normal adult can have up to a year of vitamin A stored.

n Treatment: CLO with mild changes. IM vitamin A solution, treat the underlying condition, IV with severe or chronic condition.

Vitamin B deficienciesVitamin B

deficienciesn we know they are water soluble. Needed for cellular metabolism, growth

and red blood cell formation. Common deficiencies: B1, B2,B3, B6 and B12.

n Thiamin(1) - inadequate intake. Alcoholism, chronic diarrhea. Not as big a problem with enriched foods. Beriberi is the named disease of deficiency.

n Riboflavin (2) - diet deficient in milk , meat, fish, legumes, green leafy veggies. Sunlight and baking soda can destroy riboflavin!!

n Niacin (3) - PELLAGRA (gross). Need enriched foods or meat products. The body synthesizes niacin from Tryptophan. Can get it with Carcinoid Syndrome.

n Pyridoxine (6) - usually in infants. Only in adults if taking isoniazid or penacillamine.

n Cobalamin (ake Hydroxycobalamin, Cyanocobalamin) - absorbed by? Secreted from? Associated with malabsorption.

More on B vitamin deficiencies

More on B vitamin deficiencies

n Thiamine: polyneurititis, Wernicke’s encephalopathy, Koraskoff’s psychosis. In infants it causes abdominal pain, loss of voice, edema, pallor...it can also cause cardiomegaly, dyspnea, tachycardia and circulatory collapse. Diagnosed via urinary excretion test. Treated - high protein foods, oatmeal and supplementation.

RiboflavinRiboflavinn chelosis, sore throat and glossitis (this

would be quite the deficient heat picture if you were to see it), serborrheic dermatitis, generalized dermatitis; dry, itchy, sensitive eyes with vascularization of the cornea. Eventual neuropathy and mild edema. Diagnosed via urinary creatinine excretion. Treated - supplementation, proteins, green leafy veggies, cereals/fortified foods

NiacinNiacinn Early flu-like symptoms. Backache, headache,

muscle weakness, skin eruptions. Later - red scaly skin in exposed areas, lips, mouth and tongue become sensitive. Nausea, vomiting and diarrhea. Nervous symptoms include - hallucinations and paranoia. the 3-D’s - diarrhea, dementia, dermatitis. Diagnosed via measuring N-methylnicotinamide in urinary excretion. Treatment - supplementation, meat, fish, brewer’s yeast, enriched foods.

PyridoxinePyridoxine

n Primarily seen in infants. Dermatitis, chelosis, glossitis, abdominal pain, CNS disturbance. Diagnosis is made via - urinary excretion tests and blood tests measuring transamination. Treatment - supplementation and treat the mother if breast feeding.

Cobalamin Cobalamin

n pernicious anemia causes anorexia, weight loss, abdominal discomfort, peripheral neuropathy, ataxia, hyper-reflexivity. Diagnosis - hemoglobin studies and gastric analysis (megaloblastic anemia). Treatment - supplementation (IM if absorption problem)

Treatment foods and supplements

Treatment foods and supplements

n Do I think it works. Yep. Have I ever had to treat someone I thought was severely nutritionally deficient. No. You don’t see it very often in this country.

n It may be seen in people who suffer eating disorders or IBD, celiac disease - problems with absorption. With these diseases the question is how to deliver the nutrients.

n Oral supplementation is likely to be ineffective unless their disease is well controlled and monitored.

n Choose high quality supplements - not a lot of fillers not made into a tablet as these are relatively hard to absorb. Capsules or liquids are better.

vitamin C deficiencyvitamin C deficiency

n Yarrg, you scurvy dog! Vitamin C is a necessary component in making and maintaining collagen in the body. It also acts as a cofactor in enzymatic reactions within the body and is necessary for processing folate, tyrosine and phenylalanine. It’s due to a lack of sufficient vitamin C containing foods. Quite common in elderly people in India. The supply needs to be replenished daily - water solubility means you pee it right out. Right? An interesting fact - if you over consume vitamin C while pregnant your child will require more after birth!

n Capillary fragility, follicular hyperkeratosis, anemia, anorexia, joint pain, swollen and bleeding gums. Insomnia and poor wound healing, bone fractures, psychological disturbance, irritability, depression, hysteria and hypochondriasis.

n Diagnosis: dietary history, check capillary fragility with blood pressure cuff

n treatment: can be fatal so need to give vitamin C supplementation immediately.

vitamin D deficiencyvitamin D deficiency

n Rickets. Who needs straight legs? Chronic skeletal pain, deformities and fractures. Deficiency causes increased likelihood of fracture due to decreased calcium and phosphorus absorption, increased excretion of calcium from the renal tubules, increased parathyroid activity causing increased calcium liberation from bone. Caused by inadequate consumption, malabsorption or too little sunlight.

n early signs of deficiency - sweating, restlessness, irritability. Chronically bones soften and bow, muscles are poorly developed.

n diagnosis is based on physical exam, dietary history, lab tests - serum calcium, phosphorus, alkaline phosphatase, 1,25-vitamin D

n Treatment: CLO, fortified milk. Sunlight. 10-15 minutes of hand and face exposure a day will replace vitamin D.

Food and other studies

Food and other studies

n ttp://ods.od.nih.gov/factsheets/VitaminD-HealthProfessional/

n it’s important to keep in mind that studies are changing daily. Vitamin D deficiency has been linked to several chronic diseases - colon cancer, MS, cardiovascular disease

vitamin Evitamin En antioxidant providing protection from free

radicals. Usually seen in infants if at all, due to conditions causing fat malabsorption: celiac, cystic fibrosis. In adults you will see hemolytic anemia (breakdown of RBCs causing deficiency of RBCs).

n see edema, skin lesions in infants. Adults - muscle weakness, internittent claudication

n treatment is with a water soluble supplement.

vitamin Kvitamin Kn Blood dyscrasias: n the pathologic conditions or disorders such as

leukemia or hemophilia in which the constituents of the blood are abnormal or are present in abnormal quantity.

n this vitamin is necessary for forming prothrombin and other clotting factors causing abnormal bleeding. Common among newborns because vitamin K does not easily cross the placental barrier and infants lack vitamin K producing intestinal flora. Related to use of antibiotics, anticoagulants, decreased bile flow from obstruction, malabsorption due to chronic illness.

n signs - easy bruising and prolonged bleeding. If untreated bleeding can be severe. Labs - check PT 25% longer than the usual 10-20 secs

n IV or IM vitamin K. Foods - green leafy vegetables, bacon (YES!!), tofu. Careful with this vitamin K stuff and warfarin/coumadin therapy it can really mess things up.

Hypervitaminosis A and D

Hypervitaminosis A and D

n they are fat soluble and stored which means one may have too much. Vitamin A toxicity can be reached at 1 million IU, or daily 15-25,000 IU for one year (in adults). Daily vitamin D of 100,000 IU for several months can cause toxicity.

n Vitamin A - toxicity can be reached in people being treated for dermatologic disorders. This is important because you are more likely to see this (RetinA is very common for people with chronic or cystic acne) than people being treated for rickets or hypoparathyroidism.

n Vitamin A - anorexia, irritability, headache, hair loss, malaise, itching, vertigo, bone pain and fragility and dry, peeling skin. Acutely - hydrocephalus and vomiting (Polar bear liver consumption)

n Vitamin D - anorexia, nausea, vomiting, weight loss, polyuria and polydipsia, hypercalcemia, lethargy and confusion

n treatment - quickly withholding vitamin A containing supplements, gradually decreasing vitamin D supplements

Iodine DeficiencyIodine Deficiencyn not often seen in developed nations. Recall that iodine is necessary

for manufacturing thyroid hormone within the thyroid. Deficiency in neonates causes cretinism. Most common in pregnant and lactating women due to the increased needs. Found in fortified table salts, green leafy veggies and seafood. Causes hypothyroidism and goiter.

n hypothyroidism - fatigue, dry skin, lassitude, hair loss, brittle nails...eventually bradycardia, puffy face, delayed relaxation phase in DTRs. In women - amenorrhea and menorrhagia.

n Cretinism - failure to thrive, jaundice and hypothermia and eventually signs and symptoms of Down syndrome and spastic diplegia.

n diagnosed via radioactive iodine uptake

n treatment with SSKI drops or increasing intake of foods and fortified table salt

Zinc deficiencyZinc deficiencyn essential needed for DNA an RNA synthesis - eventually protein synthesis.

Usually due to intake of foods that bind Zn preventing absorption (iron, vitamin D, calcium, fiber and cereal phytates).

n see hepatosplenomegaly, sparse hair growth, distinct nail growth pattern, poor wound healing, anorexia, hypogeusesthesia or dysgeusia, hyposmia or dysomia, bone deformities.

n treated by supplementation

n as a side note Zn can cause nausea and anorexia, need to use 2 mg of Cu per 15 mg of Zn administration. Consider asking patient to take with food

n Anosmia after Intranasal Zinc Gluconate Use - Bruce W. Jafek, M.D., Miriam R. Linschoten, Ph.D., and Bruce W. Murrow, M.D., Ph.D. From American Journal of Rhinology. “Zinc is an essential mineral. Beneficial zinc absorption takes place via enteral, parenteral, or cutaneous routes. However, direct application to the olfactory epithelium has been reported to cause loss of smell. Recently, intranasal zinc gluconate has been recommended as a treatment for the common cold. Severe posttreatment hyposmia and anosmia have been observed.”

ObesityObesity

n at 20%, or more, above ideal body weight. Why? Hmm...sensitive topic. Due to too many calories in relation to inadequate energy expenditure to match the calories taken in.

n Sooooo many complications: name some...

n generally diagnosed through analysis of BMI - height to weight comparison. Caliper measurement of thickness of subcutaneous fat - usually posterior upper arm. This is not an easy daily measure for patients.

n Theories for obesity include: hypothalamic malfunction causing hunger and satiety centers to work improperly, genetics, impaired hormone regulation (hGh, insulin...)

n Parental obesity has been linked to an increased likelihood of obesity in children

n Psychological factors

n The way to manage - lifestyle modification. Increase energy output, decrease energy input.

n Low carb diets create an initial weight loss of water weight but people tend to gain this back. There is no lifestyle modification for long term success taught.

n Fasting in any form needs to be supervised by a healthcare provider where risks of ketosis, electrolyte imbalance, hypotension and lean body mass loss can be monitored and minimized.

n Counseling and hypnosis are options

n Amphetamines have been prescribed to suppress appetite. Yep.

n Surgery: band and gastric bypass

n the key really is EDUCATION and SUPPORT, DESIRE TO CHANGE

n Movie time (it’s short and interesting)

n Marasmus (protein-calorie deficiency): growth failure and wasting

n Kwashiorkor (protein deficiency):tissue edema and damage

n common in children in underdeveloped countries, in children with chronic metabolic diseases and the elderly in nursing homes in developed countries

n Severe burns, injuries, cancers, TPN, injuries all put patients at higher risk for developing PCM or increase protein-calorie needs.

n That’s all we really need to think about unless you plan on practicing in areas where you will be the only provider to people at risk of this.

Protein-calorie Malnutrition

Protein-calorie Malnutrition

Metabolic DisordersMetabolic Disorders

galactosemiagalactosemian disorders of galactose metabolism - cataracts,

liver damage, mental retardation. Two forms - classic and galactokinase-deficiency

n inherited autosomal recessive defects - galactokinase deficiency is rarer.

n galactose is one sugar present in lactose

n neonates show signs at birth - failure to thrive, vomiting, diarrhea, hepatomegaly and jaundice develop

n serum and urine galactose levels - evaluated carefully due to neonatal propensity to excrete increased urinary galactose and high milk ingesters to have higher output

n Eliminate galactose/lactose from the diet completely.

n all 8 are inherited errors of metabolism. Recall - glycogen is the form that glucose is stored within the body.

n autosomal recessive traits

n glucose-6-phosphatase deficiency is the most common. Seen in neonates and early infancy. Infants may die of acidosis before age 2. If they survive they can grow normally with proper treatment

n treatment: maintain normal glucose levels and prevent hypoglycemia, infants need nasogastric tube feeding throughout the night. Carbohydrates need to by glucose or glucose conjugates, protein and calories normal or high, low fat.

Glycogen Storage Disease

Glycogen Storage Disease

HypoglycemiaHypoglycemian abnormally low glucose levels in the bloodstream. Two classifications -

reactive or fasting.

n Reactive is related to the diposition of meals or administration of excess insulin

n Fasting is related to long periods of going without food (discomfort causing) like the time from dinner to breakfast.

n Diabetic patients can get it after a big carb meal or after insulin injection. Controlling insulin input/output can be quite tricky if you are not the pancreas.

n Non-diabetics can get it after a large meal or largely carbohydrate meal. This type usually goes away after eating something sweet.

n Affects 1 in 1,000 people and is as common in neonates as adults.

n Can be related to insulin excess, liver disease, insulinomas in the pancreas, other tumors, adrenocortico insufficiency, pituitary insufficiency.

n Reactive: malaise, fatigue, nervousness, irritability, trembling, tension, headache, hunger, cold sweats, rapid heart rate.

n Fasting can ALSO cause: blurry or double vision, confusion, motor weakness, hemiplegia, seizures and coma.

n In infants/neonates: refusal to eat can be a primary sign of hypoglycemia!

n Need to rule out DM (a good chronic disease reason to get severe hypoglycemia)

n For diagnostic purposes: FASTING GLUCOSE - <50mg/dL, measure insulin. >=50mg/dL ask about history of extended fast

n Treatment: small frequent meals, complex carbohydrates, fiber and fat, anticholinergics to delay gastric emptying. Avoid alcohol, fruit drinks and simple sugars. If you think you might dole out nutritional advice this is something you’ll tell a lot of people. Remember that protein and fat prolong satiety and level blood sugar spikes and drops though, research shows black beans are the protein that controls blood sugar.

n Fasting hypoglycemia usually requires prescription meds and surgery

n autosomal recessive trait causing inability to metabolize fructose. Higher incidence in some European countries. Signs and symptoms are seen after introducing fructose containing foods.

n can result in failure to thrive, hypoglycemia, jaundice, vomiting...

n Removal of fructose and sucrose from the diet

Hereditary Fructose Intolerance

Hereditary Fructose Intolerance

Hyperlipoproteinemia

Hyperlipoproteinemia

n Found in 5 inherited metabolic disorders. 1 in 5 people with elevated plasma lipid and lipoprotein levels have hyperlipoproteinemia. It can also happen in diabetes, pancreatitis, hypothyroidism and renal disease. The disorder is related to lipid transport within the body.

n Can lead to coronary artery disease and pancreatitis.

n type I - abdominal cramps preceded by a fatty meal, abdominal spasm and rigidity, fever, anorexia, malaise, papular xanthomas. Type II - tendious xanthomas, xanthelasma, premature atherosclerosis.Type III - peripheral vascular disease with claudication and xanthomas over the elbows and knees. Type IV - predispostion to atherosclerosis and early coronary artery disease, made worse by chronic disease and obesity. Type V - abdominal pain, pancreatitis, peripheral neuropathy and xanthomas with hepatosplenomegaly.

n Treatment - treat underlying disease condition and/or dietary modifications and drug therapy to decrease cholesterol intake and use.

FoodsFoods

n low sugar, low fat/unsaturated fats, high fiber foods, low cholesterol, vegetarian diet, cleansing and short fasts, garlic, wheat germ, watercress, apples, celery, beans, ginger, onions

n cold water fish, flax oil

Gaucher’s DiseaseGaucher’s Diseasen most common lysosomal storage disease

abnormal accumulation of glucosylceramide (say that - woah). This builds up in lysosomes in the liver, spleen, bones, bone marrow causing anemia and osteopenia. Not tremendously common.

n Treatment - supportive. Iron to prevent iron deficiency anemia, vitamins and minerals to help prevent anemia and other hematologic problems. Splenectomy to prevent thrombocytopenia. Analgesics for bone pain.

Covered in Next Class:

Covered in Next Class:

n Porphyrias

n Metabolic Syndrome

n K imbalance

n Sodium Imbalance

n Calcium imbalance

n Cl imbalance

n Mg imbalance

n Phosphorus imbalance

n Syndrome of inappropriate antidiuretic hormones