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
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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
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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
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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
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1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
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1 min
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
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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
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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
Beighton Criteria
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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
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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
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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
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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
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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)
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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
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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
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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
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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 (Mental Retardation)
Hypopigmentation
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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
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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 (Mental Retardation)
Atherosclerosis
Consideration
Dietary Deficiencies Can Elevate Homocysteine Levels
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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 (Mental Retardation)
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1 min

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