Metabolic Disorders

Question 1

Phenylketonuria

Answer 1

A syndrome that consists of intellectual disability as well as behavioral and cognitive issues. Children are tested at birth, any levels greater than 6mg/dl require treatment.
S&S: severe intellectual disability
Treatment: dietary restriction of phenylalanine throughout life.

Question 2

Tay-Sachs Disease

Answer 2

The absence or deficiency of hexosaminidase A.
S&S: At 6 months, the child with miss developmental milestones and continue to deteriorate in motor and cognitive skills
Treatment: None

Question 3

Mitochondrial Disorders

Answer 3

Multiple different forms. Genetically inherited or spontaneous mutations in DNA.
S&S: depending on the form, can include muscle weakness, visual and hearing problems, learning disabilities, and other diseases.
Treatment: varied.

Question 4

Wilsons Disease

Answer 4

rare inherited disorder that appears in people under 40 and symptoms can develop in children typically between four and six. Produces a defect in the bodys ability to metabolize copper. Accumulates overtime in the brain, kidney, liver, and cornea.
Treatment: continual pharmacological intervention of vitamin B6

Question 5

Metabolic Alkalosis

Answer 5

Increase in bicarbonate accumulation or abnormal loss of acids. Occurs with continuous vomiting, ingestion of antiacids or diuretic therapy.
S&S: nausea, diarrhea, vomiting, confusion, muscle cramping and fasciculations
Treatment: correcting electrolyte imbalances.

Question 6

Metabolic Acidosis

Answer 6

Accumulation of acids due to an acid gain or bicarbonate loss. pH under 7.35. Occurs with renal failure, lactic acidosis, starvation, diabetic or alcoholic ketoacidosis, and severe diarrhea.
S&S: hyperventilation, vomiting, headache, weakness, cardiac arrhythmias.
Treatment: correcting electrolyte imbalance

Question 7

Osteomalacia

Answer 7

Condition where bones become soft secondary to a Ca or Ph deficiency.
S&S: aching, fatiguing, and weight loss.
Treatment: increased nutrition and pharmacological interventions

Question 8

Osteoporosis

Answer 8

Decreased bone mass which increases risk for fractures. Primarily affects trabecular and cortical bone where the rate of absorption increases and rate of formation decreases.
S&S: bone fractures, LBP and T/S pain, postural changes
Treatment: vitamins and meds, nutrition, and assistive and adaptive ed.

Question 9

Pagets Disease

Answer 9

disease characterized as heightened osteoclast activity. Process of excessive bone formation that lacks true structural integrity. Genetic component and affects people over 50 years old.
S&S: MSK pain, bone deformities, pain, headache, vertigo, hearing loss
Treatment: pharmacological interventions, exercise, weight control