MNT in Metabolic Disorders

Functional Hypoglycemia

Also called “reactive/stimulative/spontaneous hypoglycemia”

Decrease in blood sugar concentration due to hypersecretion of insulin

Carbohydrate intake stimulates pancreas to secrete higher than normal levels of insulin = hypoglycemia

Fasting Hypoglycemia

Decrease in blood sugar due to overdose of insulin, alcohol, tremors, hepatic disease and CRI

Blood sugar level is below 60mg before breakfast & after fasting

Becomes more severe if carbohydrate intake is restricted

Hyperthyroidism

An excessive secretion of thyroxine – the hormone that regulates BMR

• Anti-thyroid drugs, surgery

  • high kcal — inc BMR

Hypothyroidism

Deficient production of thyroxine due to lack of iodine

• “cretinism” for children

• “myxedema” for adults

  • thyroxine

  • low cal — prevent weight gain

  • iodine — iodine def

Hyperparathyroidism

Hypersecretion of the parathyroid gland characterized by hypercalcemia

Nausea, irritability, vomiting, osteoporosis, lethargy, kidney stones and constipation

phosphate binders

Dietary management of hyperparathyroidism

____ lower Ca levels

high fluid

Dietary management of hyperparathyroidism

prevent formation of Ca-containing renal stones

Na (IV)

Dietary management of hyperparathyroidism

to promote renal clearance and Ca excretion

Acid ash diet

Dietary management of hyperparathyroidism

acidifies urine and prevent Ca-stone formation

PO4

Dietary management of hyperparathyroidism

promotes deposition of Ca into skeleton

Hypoparathyroidism

hyposecretion of PTH characterized by hyperirritability of the nervous system as manifested by convulsions, cramps, muscle twitching and spasms

● Etiology: Absence or abnormality of the PTH

high calcium

Dietary management: hypoparathyroidism

• to normalize Ca levels

high vit D

Dietary management: hypoparathyroidism

• increased Ca absorption

Addison’s Disease

Hyposecretion of the adrenal cortex

Low aldosterone and cortisol

high Na

Dietary management: addison’s disease

• increase the level of Na

low k

Dietary management: addison’s disease

• control hyperkalemia

high kcal

Dietary management: addison’s disease

• for underweight because loss of weight due to low supply of glucocorticosteroids

cushing syndrome

Hypersecretion of hormones in the adrenal cortex

wilson’s disease

Inability of the body to metabolize copper (Cu) because of lack of ceruloplasmin (transport protein of copper)

●Characteristics: Deposition of copper in the brain

●Dietary mgt: copper-restricted to prevent Cu retention

Hemochromatosis

Disorder in iron metabolism; deposition of hemosiderin (iron-storage complex) in liver and spleen; bronzed skin

●Dietary mgt: Fe-restricted because of increased storage of iron

Inborn Errors of Metabolism

a genetic error that alters the production of protein

Newborn Screening

blood test taken from a baby to identify those that are born with metabolic/inherited problems; usually taken after a diet high in protein after 24 hours and before 7 days

Phenylketonuria

Results from the deficiency of phenylalanine hydroxylase, which coverts phenylalanine to tyrosine

a genetic metabolic disorder in which a baby is born without an important enzyme known as phenylalanine hydroxylase (PAH).

autosomal recessive genetic disease. This means a person must have two faulty copy of PAH genes, which control the PAH enzyme, in order to develop PKU. Individuals who carry only one faulty copy of the PAH gene are called “carriers”.

phenylalanine hydroxylase

necessary to break down an amino acid called phenylalanine (Phe), commonly found in most foods, into certain hormones, neurotransmitters, and melanin. Patients with PKU have little to no PAH, and so they cannot digest and break down phenylalanine.

BH4 therapy

This medication can increase the activity of the enzyme (phenylalanine-hydroxylase) that does not work in people with PKU. Some people with PKU, especially those with milder forms, can lower their blood Phe levels with this medicine, and can sometimes eat more protein. BH4 is known commercially as Kuvan.

Large Neutral Amino Acid therapy

This medication may help keep Phe from entering your brain. However, this medication cannot replace diet during pregnancy

Galactosemia

Results from lack of enzyme uridyl transferase, which catalyzes formation of glucose from galactose. This disease may result in increased concentration of galactose in blood.

Failure to metabolize galactose into glucose because of the absence of galactose-1-phosphate uridyl transferase