Exam 3 Metabolic Disease Flashcards
Wilson-Jungner Criteria for screening diseases
Public health concern Treatment available Facilities for dx/tx Latent stage of dz Test/exam for dz Test is acceptable for population Natural hx understood Policy on who to tx Economical cost Continous process
PKU cause and treatment
AR Phenylalanine hydroxylase deficency BH4 deficiency (1%) Decrease Phe in diet Supplement BH4 (sapropterin)
PKU sign/symptoms
Intellectual disability Growth retardation Seizures Hypopigmentation (melanin) Eczema Musty body odor NO ACUTE PRESENTATION
Maple syrup urine disease
Defect in branched chain AA metabolism (Iso, Leu, Val)
Branched chain ketoacid DH complex
Leucine accumulation is toxic in brain
Acute or chronic presentation
MSUD Treatment
Restriction of Iso, Leu, Val
Thiamine supplementation
MSUD Lab findings
Increased leucine
Positive allo-isoleucine
Positive urine ketones
Tyrosinemia type I
Liver, kidneys (risk for HCC)
Tx with NTBC (turn type I into type III)
Increased succinylacetone in serum/urine
NTBC decreases succinylacetone
Tyrosinemia type II
Eye, feet (occulocuteaneous)
Homocystinuria
Defect in CBS
Pres w/ lens dislocation, scoliosis, Marfan habitus
CVD, impaired wound healing
Homocystinuria treatment
Give B6, B9, B12
Methionine restriction
Betaine (shunt to methionine)
Avoid smoking and oral contraceptives
OTC-1 Deficiency
X Linked
Male present with low temp, encephalophy
Not on newborn screen
OTC-1 Deficiency tx
Lowest protein diet
dialysis
Liver transplant
Ammonia scavenging
Gaucher disease
ß-glucosidase
Hepatosplenomegaly
Erlenmeyer flask deformity of femur
Crumpled tissue paper lipid accumulations in macs
Tay Sachs disease
ß-hexoaminidase
NO hepatosplenomegaly
Cherry red spot on retina
increased startle reflex
Fabry disease
X Linked, a-galactosidase
Bathing suit pattern - angiokeratoma
Acroparestheias
Renal failure
