Andrew Shared "Biochemistry" - 68 Picmonics
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Biochemistry
McArdles Disease
- Pathophysiology
- Type V Glycogen Storage Disease
- Muscle Glycogen Phosphorylase Deficiency
- Signs and Symptoms
- Increased Glycogen in Muscle
- Painful Muscle Cramps
- Myoglobinuria
- Normal Lactic Acid
- Treatment
- Vitamin B6
2 mins
Von Gierke Disease
- Pathophysiology
- Autosomal Recessive
- Type I Glycogen Storage Disease
- Glucose-6-Phosphatase Deficiency
- Signs and Symptoms
- Increased Glycogen in Liver
- Hepatomegaly
- Enlarged Kidneys
- Severe Fasting Hypoglycemia
- Increased Triglycerides
- Increased Uric Acid (Gout)
- Increased Lactic Acid
- Doll-like Facies
- Treatment
- Continuous Oral Glucose (or Cornstarch)
- Avoid Fructose and Galactose
2 mins
Pompe Disease
- Pathophysiology
- Type II Glycogen Storage Disease
- Autosomal Recessive
- Deficiency of Lysosomal Alpha 1,4 Glucosidase
- Acid Maltase
- Signs and Symptoms
- Hypertrophic Cardiomyopathy
- Hepatomegaly
- Macroglossia
- Hypotonia
- Diagnosis
- Increased Glycogen within Lysosomes
- Increased Lactate Dehydrogenase (LDH)
- Increased Creatine Kinase (CK/CPK)
2 mins
Cori Disease
- Pathophysiology
- Type III Glycogen Storage Disease
- Deficiency of Alpha 1, 6 Glucosidase
- Debranching Enzyme
- Limit-Dextrin Accumulation (In Cytosolic Structures)
- Signs and Symptoms
- Hypoglycemia
- Muscle Weakness
- Hypotonia
- Stunted Growth
- Hepatomegaly
- Diagnosis
- Normal Blood Lactic Acid Levels
- Gluconeogenesis Intact
- Increased LFT's
- Increased Creatine Kinase (CK/CPK)
- Treatment
- Continuous Feeding
- High Protein Diet
- Cornstarch (Uncooked)
4 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
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
Prader-Willi Syndrome
- Mechanism
- Maternal Imprinting
- Deletion of Chromosome 15q (Paternal Deletion)
- Signs And Symptoms
- Hyperphagia
- Truncal Obesity
- Hypogonadism
- Undescended Testicles (Cryptorchidism)
- Intellectual Disability (Mental Retardation)
- Neonatal Hypotonia (Floppy Baby)
- Almond Shaped Eyes
- Narrow Bifrontal Diameter
- Thin Upper Lip
3 mins
Vitamin B12 (Cobalamin) Mechanism and Deficiency
- Mechanism
- Cobalamin
- Large reserve pool in the liver
- Homocysteine to methionine
- Methylmalonyl CoA to succinyl CoA
- Deficiency Signs and Symptoms
- Macrocytic Megaloblastic Anemia
- Hypersegmented Neutrophils
- Neurologic defects
- Posterior column
- Lateral corticospinal tract
- Spinocerebellar tract
5 mins
Thymic Aplasia (DiGeorge Syndrome)
- Pathophysiology
- DiGeorge Syndrome
- 22q11 Deletion
- Failure to Develop Third and Fourth Pharyngeal Pouches
- Signs and Symptoms
- Undeveloped Thymus
- T Cell Deficiency
- Recurrent Viral and Fungal Infections
- Undeveloped Parathyroids
- Hypocalcemia
- Tetany
- Aortic Defects
- Congenital Heart Defects
- Diagnosis
- Absent Thymic Shadow on CXR
2 mins
Angelman's Syndrome
- Mechanism
- Paternal Imprinting
- Deletion of Chromosome 15q (Maternal Deletion)
- Signs And Symptoms
- Happy Puppet Syndrome
- Inappropriate Laughter
- Ataxia
- Severe Intellectual Disability (Mental Retardation)
- Seizure
- Abnormal EEG
2 mins
Cri Du Chat
- Pathophysiology
- Congenital Deletion of Short Arm of Chromosome 5p
- Signs and Symptoms
- High Pitched Cry/Mewing
- Microcephaly
- Hypotonia
- Difficulty Sucking and Swallowing
- Epicanthal Folds
- Widely Spaced Eyes
- Wide & Flat Nasal Bridge
- High Arched Palate
- Intellectual Disability
- Cardiac Abnormalities
3 mins
Williams Syndrome
- Pathophysiology
- Microdeletion Of Long Arm Of Chromosome 7
- Elastin Gene
- Signs and Symptoms
- Elfin Facies
- Intellectual Disability
- Extreme Friendliness with Strangers
- Well Developed Verbal Skills
- Cardiovascular Problems
- Hypercalcemia
- Increased Sensitivity To Vitamin D
2 mins
Neurofibromatosis Type 1
- Pathophysiology
- Autosomal Dominant
- Chromosome 17
- Signs and Symptoms
- Neurofibromas
- Optic Glioma
- Lisch Nodules
- Hamartomas
- Cafe Au Lait Spots
- Scoliosis
- Pheochromocytoma
4 mins
Neurofibromatosis Type 2
- Pathophysiology
- Autosomal-Dominant
- Chromosome 22
- Signs and Symptoms
- Vestibular Schwannoma
- Meningioma
- Ependymoma
- Cafe Au Lait Spots
- Cataracts
2 mins
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
- Characteristics
- Autosomal Dominant
- Defective DNA Mismatch Repair
- 80% Risk of Colon Cancer Development
- Proximal (Right) Colon
- Type II associated with Endometrial, Ovarian and Skin Cancers
- 3-2-1 Rule
- 3 Relatives with Colon Cancer
- Occurs Across 2 Generations
- 1 Relative Diagnosed < 50 Years Old
- Treatment
- Frequent Screening
- Colectomy
3 mins
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
Hunter Syndrome
- Pathophysiology
- X-linked Recessive
- Mucopolysaccharidoses
- Iduronate Sulfatase Deficiency
- Increased Dermatan Sulfate
- Increased Heparan Sulfate
- Signs and Symptoms
- No Corneal Clouding
- Aggressive Behavior
1 min
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
Hurler Syndrome
- Pathophysiology
- Autosomal Recessive
- Mucopolysaccharidoses
- Alpha-L-Iduronidase Deficiency
- Increased Heparan Sulfate
- Increased Dermatan Sulfate
- Signs and Symptoms
- Hepatosplenomegaly
- Developmental Delay
- Gargoylism
- Corneal Clouding
- Airway Obstruction
2 mins
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