GI (abdominal pain), neuro/psych (peripheral neuropathy), heart problems (tachycardia, HTN), dark urine
- dx
- pathway
- deficient
- accumulate
- acute intermittent porphyria (AIP)
- heme synthesis
- deficient porphobilinogen deaminase
- buildup of ALA and porphobilinogen
arthritis, urine darkens upon standing, kidney stones
- dx
- deficient
- accumulate
- alkaptonuria
- deficient homogentisic acid oxidase
- accumulate homogentisate
cardiomegaly, weakness, hypotonia in infant
- dx
- deficient
- Pompe disease
- Lysosomal a-1,4 glucosidase deficiency
baby with increased ammonium in blood, MR
- deficiency
- pathway
- tx
- ornithine transcarbamylase deficiency
- urea cycle
- limit protein intake, rx phenylbutyrate (binds AAs for excretion)
young child, palpate abdominal mass (kidney), blood in urine, tumor w/ deletion of 11p
- dx
- gene deletion
- Wilms tumor
- WT1
common adrenal medulla tumor
- dx
- chromosome deletion
- gene deletion
- neuroblastoma
- 2p
- N-myc
ataxic gait, cardiac dysrhythmia
- dx
- genetic problem
- gene defect
- Friedrich ataxia
- triplet repeats
- frataxin (decreased translation)
baby can’t hold up head or make noises, pale skin / hypo pigmentation, eczema, odd odor, hyperreflexia, MR
- dx
- deficient
- blood levels: increased…
- treatment
- PKU
- phenylalanine hydroxylase
- increase phenylalanine levels
- low phenylalanine diet, supplement tyrosine
diarrhea, dermatitis, dementia
- dx
- deficient
- Pellagra
- vitamin B3 (niacin)
vitamin that prevents RBC hemolysis
Vitamin E
child w/ bilateral hip dislocations, restricted ROM in shoulder and elbow, coarse facial features, psychomotor impairment
- dx
- molecular problem
- I cell disease
- GlcNAc phosphotransferase on Golgi apparatus (so defective Golgi) can’t add mannose-6-phophate, so lysosomal enzymes can’t go into lysosomes (so will be excreted by cell) - lysosomes will be in extracellular space (instead of intracellular)
abdominal pain radiating to back, weight loss, migratory thrombophlebitis (red and tender extremities), obstructive jaundice w/ palpable gallbladder
- dx
- tumor marker
- labs
- tx
- pancreatic adenocarcinoma
- CA19-9
- increased conjugated bilirubin, increased urine bilirubin, decreased urine urobilinogen
- Whipple procedure, chemo, radiation
weak lower extremities, uses hands to get up, increased creatine kinase
- dx
- inheritance
- genetic defect
- function of gene
- Duchenne muscular dystrophy
- X recessive
- dystrophin gene
- links actin to laminin
what is the molecular cause of acidosis in alcoholism
increased NADH
Ashkenazi Jew with loss of motor skills, increased startle reaction, cherry red macula
- dx
- enzyme deficiency
- Tay-Sachs
- Hexosaminidase A
peripheral neuropathy, cardiovascular problems, renal disease
- dx
- enzyme deficiency
- Fabry disease
- alpha galactosidase A
central and peripheral demyelination, ataxia, dementia
- dx
- enzyme deficiency
- metachromatic leukodystrophy
- arylsulfatase A
developmental delay, aggressive behavior, airway obstruction
- dx
- enzyme deficiency
- Hunter syndrome
- iduronate synthase
hyperextensible joints, decreased tensile strength of collagen
- dx
- enzyme deficiency
- Ehlers Danlos
- lysyl hydroxylase
fructose intolerance
- enzyme deficiency
aldolase B
neonatal respiratory distress syndrome
- deficiency
- made from what cell
- how to test for lung maturity
- dipalmitoyl phosphatidylcholine (surfactant)
- type II pneumocytes
- lecithin:sphingomyelin ratio in amniotic fluid (decr chance of NRDS if >2)
what happens in increased elastase
- lung tissue destruction / emphysema
- liver cirrhosis
5-FU works on what phase of the cell cycle
S phase
etoposide acts on what phases of the cell cycle
G2, S phases
