Clinical Biochemistry Flashcards
Organ most affected by MELAS
Brain (Most metabolically active)
Disease characterized by NADPH-oxidase deficiency susceptible to infections from catalase positive organisms
Chronic Granulomatous disease
Patient with hemolytic anemia with fava beans intake will most likely have hemolytic anemia from ingestion of which of the ff? A) Metoprolol B) Dignoxin C) TMP SMX D) Metformin
TMP SMX
Enzyme Deficiency:
Benign asymptomatic condition where fructose appears in the urine in large amounts.
Fructokinase
Enzyme Deficiency:
Fructose intolerance, hypo-glycemia jaundice, vomiting
Aldolase B
Enzyme Deficiency:
Mild form of galactosemia with infantile cataracts
Galacto-kinase
Enzyme Deficiency:
Glactosemia + severe hepatomegaly + failure to thrive
Galactose 1 phosphate Uridyl-transferase
Enzyme Deficiency:
Build up of un-metabolized _______ leads to damage to Schwann cells, kidney and retina
Sorbitol dehydrogenase
Elderly asian with bout of gastroenteritis has repeat bloating flatulence, diarrhea after milk ingestion
Lactose intolerance
Hyper-ammonemia depletes which TCA cycle intermediate
Alpha Keto-glutarate
MC urea cycle disorder INC orotic acid in blood and urine + hyper-ammonemia
Ornithine Trans-carbamylase deficiency
Musky body odor, fair skin, intellectual disability, seizures
Phenyl-keton-uria
Enzyme Deficiency:
Dark connective tissue disorder, urine turns black with prolonged air exposure
Homogentisic oxidase deficiency
Alkaptonuria
Homocytinuria can be due to deficiency of what 2 enzymes
Cysta-thionine synthase
Homo-cysteine-methyl-transferase deficiency
Osteoporosis tall stature, kyphosis, lens subluxation (down and inward), atherosclerosis
Homo-cystinuria
Other amino acids involved in cystinuria
Cysteine Ornithine
Lysine
Arginine
(In addition to the Cystathionine synthase and homo-cysteine-methyl-transferase)
Maple syrup urine disease has decreased breakdown of what amino acid
Iso-leucine
Leucine
Valine
Glucose 6 phosphatase deficiency is also known as
Von Gierke
Enzyme Deficiency: Pompe Cardio-myopathy Early death Glycogen storage disease
Acid maltase deficiency
MC Sphingo-lipid storage disease
Crumpled tissue paper appearance of lipd laden macrophages
Gauchers-Gluco-cerebro-sidase deficiency
Hepatosplenomegaly, cherry red spot macula, foam cells
Niemann Pick Sphingo-mylinase deficiency
Cherry Red spot, mental retardation, lysosome with onion skinning, (-) hepatosplenomegaly
Tay Sach’s
Hexosaminidase A deficiency –>
GM2 Ganglioside accumulation
Lipo-protein-lipase deficiency INC serum chylomicrons
Type 1 Familial Hyper-lipo-protein-emia
Defective LDL receptors familial
Type 2 A
Familial Hyper-triglyceride-mia
Type 4
Committed step of heme synthesis
ALA synthase
Enzyme deficient in Severe combined immuno-deficiency
Adenosine Deaminase
Hyper-uricemia is seen in which glycogen storage disease
Von Gierke
Enzyme Deficiency
Hyper-uricemia, self-mutilation,
HGPT-tase deficiency
Lesch nyhan invovles what pathway
Salvage pathway
Ezyme inhibited by febuxostat and allopurinol
Xanthine oxidase
Glycogen storage dse:
Severe hypo-glycemia because glucose is trapped in the hepatocyte and cannot be released into the blood
Glucose 5 phosphatase deficiency
“Von Glerke’s”
Glycogen Storage Disease
Glycogen storage dse
- Associated w heart failure
- Acid maltase def
Pompe’s
Glycogen storage dse
- Debranching enzyme def
- accumulation of branched polysaccharide
Cori’s dse
Glycogen storage dse
- Branching enzyme def
- accumulation of polysaccharide with few branch points
Anderson’s
Glycogen storage dse
- Muscle phosphorylase def
- Poor exercise tolerance
- Accumulation of muscle glycogen
McArdle’s disease
Glycogen storage dse
- Liver phosphorylase def
- accumulation of liver glycogen
- Glycogenolysis is impaired but gluco-neo-genesis is functional –> mild hypo-glycemia
Her’s disease
Conjugated or Unconjugated Biliruben:
INC direct serum bilirubin
(-) Urine urobilinogen
(+) Urine bilirubin
Conjugated
Conjugated or Unconjugated Biliruben:
INC indirect serum bilirubin
(+) Urine urobilinogen
(-) Urine bilirubin
Unconjugated
Conjugated or Unconjugated Biliruben: Gilbert
Unconjugated
Conjugated or Unconjugated Biliruben: Obstructive Jaundice
Conjugated
Conjugated or Unconjugated Biliruben: Dubin Johnson
Conjugated
NOTE: with Liver Hyperpigmentation (unlike Rotor syndrome)
Conjugated or Unconjugated Biliruben: Rotor Syndrome
Conjugated
NOTE: No liver pigmentation
In the well-fed state, insulin ________ glycogen synthase
Dephosphorylates
NOTE during fasting, Glucagon will phosphorylate Glucose 6 phosphatase
During fasting, Glucagon will phosphorylate _______________
Glucose 6 phosphatase
NOTE During well fed state, insulin will dephosphorylate glycogen synthase.
Acetyl Coa Carboxylase
Propionyl carboxylase
Pyruvate carboxylase
Three requirements these enzymes need
ATP
Bio Tin
CO2
