USMLE Step 1 - Biochem General Path
Lesch-Nyhan Syndrome
X-linked Recessive
Etiology
-Hypoxanthine/Guanine Phosphoribosyltransferase (HGPRT) deficiency
Sx
-Hyperuricemia
-Gout (Affects joints)
-Aggression
-Self mutilation
-Dystonia
Labs
-↑↑ PRPP Synthase
-↑↑ PRPP Amidotransferase
-↓↓ HGPRT
Transformation
Ability of Bacteria to take "Naked DNA" from the environment + incorporate it into its genome
Kwashiorkor
Protein deficiency
Dx
-Edema
-Fatty Liver
-Skin lesions
Marasmus
,Wasting Syndrome - Calorie deficiency
Dx
-NO Edema
-Loss of subcutaneous Fat
-Muscle mass wasting
Shoulder Pain
Referred pain for Diaphragmatic irritation
X-linked Recessive
Type of inheritance seen in pts which are male + affected , but they're born to unaffected
parents
Pathophys
-Affected males produce unaffected sons + carrier daughters
-Affected females have 50% chain of producing affected sons or carrier daughters
Hydrogen
Compounds with the largest amount of ______________________ ions provide the greatest
amount of ATP during Aerobic Catabolism
Serine
Amino Acid in Acetylcholinesterase which gets targeted by Diisopropyl Fluorophosphate
Chondroitin Sulfate
Highly Polar molecule with many "-" charges
It is because of the "-" charges + polarity that it occupies a large volume in solution
FA Oxidation
Increased in the starved state or DM-Type 1
Starvation
Untreated DM Type 1
Dx
-↑↑ levels of Acetyl CoA (after breakdown of FAs in the Mitochondria)
,Hypobetalipoproteinemia
Etiology
-Dysfunctional Apo B
Labs
-↓↓ Total Cholesterol
-↓↓ CMs
-↓↓ VLDLs
-↓↓ LDLs
-Normal HDLs
Tangier Disease
Etiology
-Dysfunctional Apo A
Labs
-↓↓ HDLs
Carbonic Anhydrase Deficiency
Intracellular Labs
-↑↑ HCO3-
Serum Labs
-↑↑ Cl-
**Remember that this is after compensation through the HCO3-/Cl- Exchanger**
Matrix Metalloproteinase
Enzymes which are necessary for Wound Healing + Bone Remodelling
Phagocytosis
Cell Eating
Affected by drugs which prevent polymerization of Actin filaments
, Acting filaments permit for the extension of the cell membrane around the Pathogen, allowing
for its encapsulation and internalization
Leucine Zipper
Transcription Factors which are composed of repeated Leucine residues at every 7th Amino
Acids position
Ornithine Transcarbamylase Deficiency
Dx
-Normal Glucose levels
-Hyperammonemia
-Orotic Aciduria
Prolyl Hydroxylase
Enzyme responsible for Hydroxylation of Proline residues, requires Vitamin C, and is responsible
for the proper assembly of the Triple Helix formation of Collagen molecules
Carbamoyl Phosphate Synthethase I Deficiency
Dx
-↑↑ Orotic Acid
-↓↓ Citrulline
G-Protein Coupled Receptors
Dx
-Presence of 7 Trans-membrane Hydrophobic α-Helical domains
Xeroderma Pigmentosum
Etiology
-Endonuclease deficiency
Effects
-Failure of the Nucleotide Excision Repair
Sx
-Xeroderma
Lesch-Nyhan Syndrome
X-linked Recessive
Etiology
-Hypoxanthine/Guanine Phosphoribosyltransferase (HGPRT) deficiency
Sx
-Hyperuricemia
-Gout (Affects joints)
-Aggression
-Self mutilation
-Dystonia
Labs
-↑↑ PRPP Synthase
-↑↑ PRPP Amidotransferase
-↓↓ HGPRT
Transformation
Ability of Bacteria to take "Naked DNA" from the environment + incorporate it into its genome
Kwashiorkor
Protein deficiency
Dx
-Edema
-Fatty Liver
-Skin lesions
Marasmus
,Wasting Syndrome - Calorie deficiency
Dx
-NO Edema
-Loss of subcutaneous Fat
-Muscle mass wasting
Shoulder Pain
Referred pain for Diaphragmatic irritation
X-linked Recessive
Type of inheritance seen in pts which are male + affected , but they're born to unaffected
parents
Pathophys
-Affected males produce unaffected sons + carrier daughters
-Affected females have 50% chain of producing affected sons or carrier daughters
Hydrogen
Compounds with the largest amount of ______________________ ions provide the greatest
amount of ATP during Aerobic Catabolism
Serine
Amino Acid in Acetylcholinesterase which gets targeted by Diisopropyl Fluorophosphate
Chondroitin Sulfate
Highly Polar molecule with many "-" charges
It is because of the "-" charges + polarity that it occupies a large volume in solution
FA Oxidation
Increased in the starved state or DM-Type 1
Starvation
Untreated DM Type 1
Dx
-↑↑ levels of Acetyl CoA (after breakdown of FAs in the Mitochondria)
,Hypobetalipoproteinemia
Etiology
-Dysfunctional Apo B
Labs
-↓↓ Total Cholesterol
-↓↓ CMs
-↓↓ VLDLs
-↓↓ LDLs
-Normal HDLs
Tangier Disease
Etiology
-Dysfunctional Apo A
Labs
-↓↓ HDLs
Carbonic Anhydrase Deficiency
Intracellular Labs
-↑↑ HCO3-
Serum Labs
-↑↑ Cl-
**Remember that this is after compensation through the HCO3-/Cl- Exchanger**
Matrix Metalloproteinase
Enzymes which are necessary for Wound Healing + Bone Remodelling
Phagocytosis
Cell Eating
Affected by drugs which prevent polymerization of Actin filaments
, Acting filaments permit for the extension of the cell membrane around the Pathogen, allowing
for its encapsulation and internalization
Leucine Zipper
Transcription Factors which are composed of repeated Leucine residues at every 7th Amino
Acids position
Ornithine Transcarbamylase Deficiency
Dx
-Normal Glucose levels
-Hyperammonemia
-Orotic Aciduria
Prolyl Hydroxylase
Enzyme responsible for Hydroxylation of Proline residues, requires Vitamin C, and is responsible
for the proper assembly of the Triple Helix formation of Collagen molecules
Carbamoyl Phosphate Synthethase I Deficiency
Dx
-↑↑ Orotic Acid
-↓↓ Citrulline
G-Protein Coupled Receptors
Dx
-Presence of 7 Trans-membrane Hydrophobic α-Helical domains
Xeroderma Pigmentosum
Etiology
-Endonuclease deficiency
Effects
-Failure of the Nucleotide Excision Repair
Sx
-Xeroderma
