Benjamin Shared "Biochemistry Block 3" - 28 Picmonics
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Biochemistry Block 3
Niemann-Pick Disease
- Pathophysiology
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Diagnosis
- Foam Cells
1 min
Gauchers Disease
- Pathophysiology
- Autosomal Recessive
- Beta Glucocerebrosidase Deficiency
- Diagnosis
- Lipid-laden Macrophages
- Crumpled Tissue Paper
- Signs and Symptoms
- Osteoporosis
- Bone Crises
- Aseptic Necrosis of Femur
- Erlenmeyer Flask Deformity
- Hepatosplenomegaly
- Pancytopenia
2 mins
Tay-Sachs Disease
- Pathophysiology
- Autosomal Recessive
- Hexosaminidase A Deficiency
- Increased GM2 Ganglioside
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Neurodegeneration
- Developmental Delay
- Diagnosis
- Onion Skin Lysosomes
1 min
Fabry's Disease
- Pathophysiology
- X-linked Recessive
- Alpha-galactosidase A Deficiency
- Increased Ceramide trihexoside
- Early Signs and Symptoms
- Decreased Sweating (Hypohidrosis)
- Angiokeratoma
- Episodic Peripheral Neuropathy
- Late Signs and Symptoms
- Cardiovascular Disease
- Renal Failure
1 min
Krabbe Disease
- Pathophysiology
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Signs and Symptoms
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Diagnosis
- Globoid Cells
1 min
Metachromatic Leukodystrophy
- Pathophysiology
- Autosomal Recessive
- Arylsulfatase A Deficiency
- Increased Cerebroside Sulfate
- Signs and Symptoms
- Demyelination
- Ataxia
- Dementia
1 min
Hemoglobin
- Hemoglobin Has Four Iron Hemes
- Lots Of Hemoglobin In Red Blood Cells
- High O2 Levels Increase O2 Binding
- High Temperature Reduces O2 Binding
- High CO2 Levels Reduce O2 Binding
- Low pH Reduces O2 Binding
- Myoglobin Binds Oxygen in Muscle
2 mins
Ehlers-Danlos Syndrome Disease
- Pathophysiology
- Faulty Collagen Synthesis
- Autosomal Dominant or Recessive
- Various Severities
- Signs and Symptoms
- Hypermobile Joints
- Hyperextensible Skin
- Easy Bruising/Bleeding
- Berry (Saccular) Aneurysm
- Considerations
- Brighton Criteria
2 mins
Osteogenesis Imperfecta
- Pathophysiology
- Autosomal Dominant
- Decreased Type I Collagen Production
- Symptoms
- Phenotypically Diverse
- Brittle Bone Disease
- Fractures from Minimal Trauma
- Confused with Child Abuse
- Hearing Loss
- Dental Imperfections
- Blue Sclera
1 min
Vitamin C Mechanism and Deficiency
- Mechanism
- Ascorbic acid
- Antioxidant
- Protects Against Free Radicals
- Keeps Iron in Reduced State
- Hydroxylation of Proline and Lysine
- Necessary for Dopamine B Hydroxylase
- Deficiency Signs and Symptoms
- Scurvy
- Swollen Gums
- Bruising
- Poor Wound Healing
- Hemarthrosis
- Perifollicular Hemorrhages
- Anemia
4 mins
Gilbert's Syndrome
- Pathophysiology
- Decreased UDP-Glucuronosyltransferase Activity
- Decreased Bilirubin Conjugation
- Signs and Symptoms
- Often Asymptomatic
- Jaundice (Mild)
- Fasting
- Stress
- Alcohol Intake
- Labs
- Increased Unconjugated Bilirubin
2 mins
Acute Intermittent Porphyria (AIP)
- Pathophysiology
- Autosomal Dominant
- Inhibited Porphobilinogen Deaminase
- Increased Serum Porphobilinogen
- Increased Serum Delta-ALA
- Increased Urinary Porphyrin Precursors
- Signs & Symptoms
- Precipitated By P450 Inducers
- Painful Abdomen
- Polyneuropathy
- Psychological Disturbances
- Port Wine-Colored Urine
- Treatment
- Glucose and Hemin
- Considerations
- Avoid Triggers
3 mins
Porphyria Cutanea Tarda (PCT)
- Pathophysiology
- Inhibited Uroporphyrinogen Decarboxylase (UROD)
- Most Common Porphyria
- 20% Autosomal Dominant
- 80% Sporadic Type
- Hepatitis C Association
- Signs & Symptoms
- Photosensitivity
- Blistering of Skin
- Tea Colored Urine
- Diagnosis
- Increased Uroporphyrins (Urinary & Serum)
- Treatment
- Avoid Sunlight
- Phlebotomy
- Hydroxychloroquine (Low Dose)
3 mins
Crigler-Najjar Syndrome Type 1
- Pathophysiology
- Autosomal Recessive
- Absent UDP-glucuronosyltransferase
- Symptoms
- Neonatal Jaundice
- Kernicterus
- Diagnosis
- Normal Liver Function Tests
- Elevated Unconjugated Bilirubin
- Treatment
- Phototherapy
- Plasmapheresis
- Calcium Phosphate and Orlistat
- Death often by Age 2
- Considerations
- No Response to Phenobarbital
3 mins
Hyperammonemia
- Pathophysiology
- Hereditary Urea Cycle Defects
- Acquired Through Liver Disease
- Inhibits the Citric Acid Cycle
- Signs & Symptoms
- Somnolence
- Slurring of Speech
- Tremor
- Cerebral Edema
- Vomiting
- Blurring of Vision
- Treatment
- Limit Protein in Diet
- Lactulose
- Benzoate Binds Amino Acid for Excretion
- Phenylbutyrate
4 mins
Urea Cycle
- Mitochondria
- N-Acetylglutamate
- Carbamoyl Phosphate Synthetase I
- NH3 + CO2
- Carbamoyl Phosphate
- Ornithine Transcarbamylase
- Citrulline
- Cytosol
- Aspartate
- Argininosuccinate
- Fumarate
- Arginine
- H2O to Urea
- Ornithine
3 mins
Phenylketonuria (PKU)
- Pathophysiology
- Decreased Phenylalanine Hydroxylase
- Decreased Tetrahydrobiopterin Cofactor
- Autosomal Recessive
- Tyrosine Becomes Essential
- Phenylalanine Found in Nutrasweet
- Symptoms
- Musty or Mousy Body Odor
- Growth Retardation
- Seizures
- Intellectual Disability
- Hypopigmentation
2 mins
Alkaptonuria
- Autosomal Recessive
- Deficiency of homogentisic acid oxidase
- In degradative pathway of tyrosine to fumarate
- Homogentisic acid harmful to cartilage
- Arthritis
- Dark Connective Tissue
- Urine turns black on standing
1 min
Homocystinuria
- Pathophysiology
- Autosomal Recessive
- 4 Forms
- Cystathionine Synthase Deficiency
- Decreased Affinity of Cystathionine Synthase For Vitamin B6
- Methionine Synthase Deficiency
- Methylenetetrahydrofolate Reductase (MTHFR) Deficiency
- Signs and Symptoms
- Marfanoid Body Habitus
- Kyphosis
- Lens Subluxation (Inferior)
- Intellectual Disability
- Atherosclerosis
- Consideration
- Dietary Deficiencies Can Elevate Homocysteine Levels
3 mins
Maple Syrup Urine Disease
- Pathophysiology
- Defect in alpha ketoacid dehydrogenase
- Blocked degradation of branched chain amino acids
- Leucine
- Isoleucine
- Valine
- Signs and Symptoms
- Seizures
- Intellectual Disability
1 min
