Metabolic System: General Overview

Question 1

Autosomal recessive, common in Caucasian
Deficiency of enzyme phenylalanine hydroxylase
Untreated results in severe mental retardation but will observe a few months after birth gait disturbances, hyperactivity, psychoses, abnormal body odor, lighter features than family.

Answer 1

Phenylketonuria (PKU)

Question 2

Autosomal recessive, appears in people under 40 years old and can develop in children between 4-6 years old.
Inability to metabolize copper causing Kayser-Fleischer rings surrounding the iris of the eye, basal ganglia degeneration, hepatitis, cirrhosis of the liver, athetoid movements, and ataxic gait patterns.

Answer 2

Wilson’s Disease (hepatolenticular degeneration)

Question 3

Increase in bicarbonate accumulation or an abnormal loss of acids (pH rises above 7.45)
Commonly occurs with continuous vomiting, ingestion of antacids or alkaline substances or diuretic therapy.
Associated with hypokalemia or nasogastric suctioning
Symptoms include nausea, diarrhea, prolonged vomiting, confusion, muscle fasciculations, cramping, neuromuscular hyper-excitability, convulsions, paresthesias, and hypoventilation.

Answer 3

Metabolic Alkalosis

Question 4

Accumulation of acids or bicarbonate loss (pH drops below 7.35)
Occurs with conditions such as renal failure, lactic acidosis, starvation, diabetic/alcoholic ketoacidosis, severe diarrhea or poisoning
Symptoms include compensatory hyperventilation, vomiting, diarrhea, headache, weakness and malasie, hyperkalemia, and cardiac arrhythmias

Answer 4

Metabolic Acidosis

Question 5

Soft bones due to calcium/phosphorus deficiency of vitamin D deficiency.
Vague presentation of aching, fatigue, and weight loss. Myopathy and sensory polyneuropathy may occur along with periarticular tenderness and pain, thoracic kyphosis deformity, and bowing of the lower extremities.

Answer 5

Osteomalacia

Question 6

Decrease in bone mass that increases risk of fracture.

Symptoms include compression and fractures, low thoracic or lumbar pain, loss of lumbar lordosis, postural changes

Answer 6

Osteoporosis

• Primary Osteoporosis: idiopathic, postmenopausal or involutional (senile)
• Secondary Osteoporosis: result of another primary condition or with use of certain medications

Question 7

Metabolic condition characterized by heightened osteoclast activity (excessive bone formation). Bones are large but lack structural integrity and strength.
Over 50 years of age
Symptoms include bone deformities, continued pain, headache, vertigo, hearing loss, mental deterioration, fatigue, increased cardiac output, and heart failure

Answer 7

Paget’s Disease

Question 8

ATP producing metabolic processes that are dependent on oxygen transported via the circulatory system.
Provide energy for low intensity and/or longer duration

Answer 8

Aerobic metabolism

Question 9

metabolic process in which simple molecules are combined to create the complex molecules needed for tissue and organ growth

Answer 9

Anabolism

Question 10

metabolic functions that don’t require the presence of oxygen.
Provide energy for high intensity, short duration activities

Answer 10

Anaerobic metabolism

Question 11

metabolic process in which complex materials are broken down in the body

Answer 11

Catabolism

Question 12

Condition presenting with low bone mass that is not sever enough to qualify as osteoporosis. May not have actual bone loss, but a naturally lower bone density than normal

Answer 12

Osteopenia

Question 13

A group of conditions characterized by impaired osteoclast function which causes bone to become thickened but fragile.

Answer 13

Osteopetrosis

Question 14

WHO T-score for women indicative of osteopenia

Answer 14

-1 SD to -2.5 SD

Question 15

WHO T-score for women indicative of osteoporsis