Metabolic System Flashcards
Phenylketonuria
consists of intellectual disability as well as behavioral and cognitive issues secondary to an elevation of serum phenylalanine
Usually in children
Symptoms of phenylketonuria
within a few months of birth
If left untreated, severe intellectual disability occurs.
Also experience gait disturbances, hyperactivity, psychoses, abnormal body odor, display features that are lighter in coloring compared to other family members.
Treatment of phenylketonuria
dietary restriction of phynylalanine and that can prevent manifestations of disease
Tay-Sachs Disease
recessive trait in Eastern European Jewish population
Symptoms of Tay-Sachs disease
appears at 6 months of age
starts to miss developmental milestones and continue to deteriorate in motor and cognitive skills.
As symptoms progress, pt develops significant intellectual disability and paralysis and will die by age of five
no effective treatment
Mitochondrial Disease
can include loss of muscle coordination, muscle weakness, visual and hearing problems, learning disabilities, heart, liver and kidney disease, respiratory, neurological and GI disorders and dementia.
Wilson’s disease
rare inherited disorder most common in italian descent and people under 40
symptoms can develop in children between 4-6
body’s inability to metabolize copper
Wilson’s disease symptoms
development of Kayser-Fleischer rings surrounding iris secondary to copper deposits
degenerative changes in brain
hepatitis
cirrhosis of liver
athetoid movements
ataxic gait patterns
emotional and behavioral changes
Over time with severe disease: deformities of MSK system, pathologic fractures, osteomalacia, muscle atrophy, contractures
Rehabbing those with inherited metabolic disorders
awareness of dietary restrictions
patient and family training to prevent harmful effects
adapt treatment to facilitate developmental milestones
Metabolic alkalosis
bicarbonate accumulation or abnormal acid loss
pH >7.45
from continuous vomiting, ingestion of antacids, diuretic therapy.
May also be associated with hypokalemia and nasogastric suctioning.
Metabolic Acidosis
accumulation of acids due to acid gain or bicarbonate loss
pH >7.35
renal failure, lactic acidosis, starvation, diabetic or alcoholic ketoacidosis, severe diarrhea or poisoning by certain toxins
Rehab for those with acid-base disorders:
Higher risk for these disorders are those with…
renal, CVD, pulmonary disease, burns, fever, sepsis, those on mechanical ventilation, DM, V/D, enteric drainage
Be able to recognize signs of ___ in those with diabetes
dehydration
Recognize those on ___ therapy
diuretic
Trousseau’s sign
with BP cuff
they spasm and flex wrist, thumb, MCP and hyper ext IP
Osteomalacia
where bones become soft secondary to calcium or phosphorus deficiency
How is calcium usually lost?
inadequate intestinal absorption
How is phosphorus lost?
increase in renal excretion
A deficiency in what vitamin also causes osteomalacia?
D
Conditions that cause low bone mass
Cushings
osteomalacia
hyperthyroidism
hyperparathyroidism
celiac disease
rheumatoid arthritis
renal failure
hypogonadism
osteogenesis imperfecta
Signs and symptoms of osteomalacia
thoracic kyphosis
bowing of LE
Struggle to perform transfers and assume standing position
Pagets disease
heightened osteoclast activity
excessive bone formation but lacks true structural integrity
affects those over 50
Signs and symptoms of Pagets disease
kyphosis
coxa varus
bowing of long bones
vertebral compression
pain
headache
vertigo
hearing loss
mental deterioration
fatigue
increased CO
HF
Bones affected the most with Pagets disease
skull
clavicle
pelvis
femur
spine
tibia
Treatment of those with Pagets disease
exercise
weight control
cardiac fitness
Rehabbing those with metabolic bone disease
awareness of compression fracture
T-score for osteopenia
-1 to -2.5
T-score for osteoporosis
-2.5 or lower
Osteopetrosis
group of conditions characterized by impaired osteoclast function which causes bones to become thickened
