Metabolic System Flashcards
(14 cards)
Inherited Metabolic Disorders
Diagnosed in utero via amniocentesis and chorionic villus sampling
Newborn symptoms: Lethargy, apnea, poor feeding, tachypnea, vomiting, hypoglycemia, urine changes, and seizures
If immediately apparent, indicative of more dangerous disorder
Metabolic Function
Catabolism: Breakdown of organic compounds
Anabolism: Combining of simple molecules for tissue growth
Phenylketonuria (PKU)
Mental retardation, behavioral and cognitive issues
Elevation of phenylalanine due to phenylalanine hydroxylase enzyme deficiency
Excessive phenylalanine normally converted to tyrosine, brain becomes primary affected organ, levels > 6 mg/dl = treat
Etiology: Autosomal recessive, Caucasian
S/S: present within a few months of birth, severe mental retardation if untreated, gait issues, hyperactivity, psychoses, body
odor, lighter color features
Treatment: Dietary restriction of phenylalanine throughout lifetime
Tay-Sachs Disease
Absence/deficiency of hexosaminidase A causing accumulation of gangliosides (GM2) in the brain
Etiology: Autosomal recessive, Estern European Jewish
S/S: At 6 months begin missing developmental milestones, continue to deteriorate motor and cognitive skills, significant mental
retardation and paralysis, dig by age of 5
Treatment: no effective treatment, genetic testing before birth
Mitochondrial Disorders
Over 100
Etiology: Inherited/spontaneous DNA mutations causing impaired protein function in mitochondria
S/S: Loss of coordination, weakness, visual and hearing problems, learning disabilities, heart, liver, and kidney disease, respiratory, neurological, GI disorders, dementia
Treatment: Alleviate symptoms, slow progression
Wilson’s Disease
Rare, autosomal recessive, eastern Europeans, Sicilians, southern Italians, < 40 but symptoms can develop age 4-6
Etiology: Defect on ability to metabolize copper, accumulate over time in brain, liver, cornea, kidney, other tissues
S/S: Kayser-Fleischer rings around iris, degenerative brain changes (basal ganglia), hepatitis, cirrhosis, athetosis, ataxia
Emotional and behavioral changes, severe = musculoskeletal deformities, pathological fxs, osteomalacia, atrophy, contractures
Treatment: Vit B6 and D-penicillamine promote excretion of excess copper, prevent hepatic disease - untreated = death
Acid-Base Metabolic Disorders
Metabolism regulated by endocrine and nervous systems
Rate influenced by body temp, exercise, hormone and digestive activity
Metabolic Alkalosis
Increase bicarbonate or decrease acids (>7.45)
Etiology: Continuous vomiting, antacids or other alkaline substances, diuretics; hypokalemia or nasogastric suctioning
S/S: N/v, diarrhea, confusion, fascicultions, cramping, nm hyperexcitability, convulsions, paresthesias, hypoventilation
Untreated = coma, seizures, respiratory paralysis
Treatment: KCl, underlying cause, electrolyte imbalance
Metabolic Acidosis
Decrease bicarbonate, increase acids (<7.35)
Etiology: Renal failure, lactic acidosis, starvation, DM or alcoholic ketoacidosis, severe diarrhea or poisoning
S/S: Hyperventilation, vomiting, diarrhea, HA, weakness, malaise, hyperkalemia, arrhythmias
Untreated = coma and death
Treatment: NaHCO3, underlying cause, electrolyte imbalances
Osteomalacia
Bones soften from calcium or phosphorous deficiency
Adequate bone matrix, inadequate calcification of matrix
Calcium: Inadequate intestinal absorption
Phosphorus: Increased renal secretion
Vitamin D deficiency can also cause osteomalacia
S/S: Vague aching, fatigue, weight loss; myopathy and sensory polyneuropathy with periarticular tenderness, pain, kyphosis, bowing, transfer and standing a struggle
Osteopetrosis
Group of conditions
Impaired osteoclasts function
Bone thickens but is fragile
Inherited
Paget’s Disease
Increased osteoclast activity
Excessive bone formation lacks true structural integrity
Bone appears enlarged but is weak from hi turnover of bone
Genetic, geographical, over 50
S/S: Musculoskeletal pain and bony deformities (kyphosis, coxa varus, long bone bowing, vertebral compression
Advanced: pain, HA, vertigo, hearing loss, mental deterioration, fatigue, increased CO and resulting HF
Treatment: Phosphorus to inhibit bone resorption
Osteoporosis
Primary or secondary
S/S: Fxs, low thoracic/lumbar pain, decreased lordosis, kyphosis, decreased height, dowager’s hump, postural changes
Bone Mineral Density (BMD)
Dual-energy x-ray absorptiometry
T-Score: Std dev above/below avg healthy young adult
Z-Score: Std dev above/below avg age and gender
Osteopenia: -1 to -2.5 SD
Osteoporosis: > -2.5 SD
Severe Osteoporosis: > -2.5 SD and 1+ related fxs
