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
