Mary Shared "biochem test 3" - 41 Picmonics
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biochem test 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
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
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
Cholesterol Synthesis
- Pathway
- Acetyl-CoA
- Acetoacetyl-CoA
- Cytosolic HMG-CoA Synthase
- HMG-CoA
- HMG-CoA Reductase
- Mevalonate
- Cholesterol
2 mins
Cholesterol Lab Values
- LDL (Low Density Cholesterol)
- < 100 mg/dL
- HDL (High Density Cholesterol)
- > 40 mg/dL Males
- > 50 mg/dL Females
- Total Cholesterol
- < 200 mg/dL
1 min
Hypercholesterolemia Disease
- Risk Factors
- Diabetes
- Smoking
- Family History
- Hypertension
- HDL < 40
- Men Older than 45 Years of Age
- Women Older than 55 Years of Age
- Signs and Symptoms
- Atheromas
- Plaques in Blood Vessel Walls
- Tissue Ischemia
- Xanthomas
- Lipemia Retinalis
2 mins
Addison's Disease
- Mechanism
- Chronic 1° Adrenal Insufficiency
- Atrophy
- Destruction
- Symptoms
- Deficiency In Cortisol And Aldosterone
- Skin Hyperpigmentation
- Increased POMC
- Hypotension
- Hyperkalemia
- Acidosis
- Addisonian Crisis
- Diagnosis
- ACTH (Cosyntropin) Stimulation Test
- Treatment
- Exogenous Cortisol
2 mins
Cushing's Syndrome Symptoms And Diagnosis
- Symptoms/Findings
- Osteoporosis
- Amenorrhea
- Truncal Obesity
- Skin Changes
- Buffalo Hump
- Immune Suppression
- Moon Facies
- Hypertension
- Decreased Insulin Sensitivity
- Diagnosis
- 24-hour urine free Cortisol
- Dexamethasone Suppression Test
2 mins
21 Hydroxylase Deficiency
- Pathophysiology
- Decreased Cortisol
- Increased 17 Hydroxyprogesterone
- Decreased Aldosterone
- Signs and Symptoms
- Hypotension
- Increased Renin
- Hyperkalemia
- Female Pseudohermaphroditism
2 mins
17 Alpha Hydroxylase Deficiency
- Decreased Cortisol
- Decreased Sex Hormones
- Increased Mineralocorticoids (DOC)
- Hypertension
- Hypokalemia
- XY Externally Phenotypic Female
- No Internal Reproductive Structures Due to Mullerian Inhibitory Factor
- XX Externally Phenotypic Female
- Sexual Infantilism
2 mins
11 Beta-Hydroxylase Deficiency
- Pathophysiology
- Decreased Cortisol
- Decreased Aldosterone
- Increased Sex Hormones
- Increased 11 Deoxycorticosterone (11 DOC)
- Signs and Symptoms
- Hypertension
- Masculinization
1 min
Cystinuria
- Pathophysiology
- Defect of Renal Tubular Amino Acid Transporter
- C-O-L-A Acronym
- Cystine
- Ornithine
- Lysine
- Arginine
- Signs and Symptoms
- Excess Cystine in Urine
- Hexagonal Crystals
- Staghorn Kidney Stones
- Diagnosis
- Cyanide Nitroprusside Test
- Treatment
- Acetazolamide to Alkalinize the Urine
3 mins
Hartnup Disease
- Pathophysiology
- Autosomal Recessive
- Defective Sodium-Dependent Transporter
- Neutral Amino Acids
- Renal and Intestinal Cells
- Tryptophan Deficiency
- Impaired Synthesis of Niacin
- Signs and Symptoms
- Pellagra-Like Symptoms
- Diarrhea
- Dermatitis
- Dementia
- Ataxia
- DIAGNOSIS
- Neutral Aminoaciduria
- TREATMENT
- High-Protein Diet
- Niacin Supplementation
2 mins
Cystic Fibrosis Symptoms and Complications
- Recurrent Pulmonary Infections
- Chronic Bronchitis
- Nasal Polyps
- Pancreatic Insufficiency
- Intestinal Obstruction
- Malabsorption and Diarrhea
- Vitamin Deficiencies
- Chronic Hepatic Disease
- Infertility in Males
1 min
Celiac Disease Characteristics
- Epidemiology
- European Descent
- HLA-DQ2
- HLA-DQ8
- Pathophysiology
- Autoimmune-mediated Intolerance of Gliadin
- Symptoms
- Dermatitis Herpetiformis
- Weight Loss
- Failure to Thrive
- Decreased Bone Density
- Steatorrhea
- Anemia
2 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
Hydroxyurea
- Mechanism
- Inhibits Ribonucleotide Reductase
- Decreased DNA Synthesis
- S-phase Specific
- Indications
- Melanoma
- Chronic Myelogenous Leukemia (CML)
- Sickle Cell Disease
- Through Increased HbF (Fetal Hemoglobin)
- Side Effects
- Myelosuppression
- GI Distress
2 mins
Orotic Aciduria
- Pathophysiology
- Autosomal Recessive
- Defect in UMP Synthase
- De Novo Pyrimidine Synthesis Pathway
- Symptoms
- Increased Orotic Acid in Urine
- Megaloblastic Anemia
- No Response to B12 or Folate
- Non-Hyperammonemic
- Failure to Thrive
- Treatment
- Oral Uridine Monophosphate
2 mins
Ornithine Transcarbamylase Deficiency
- Pathophysiology
- Most Common Urea Cycle Disorder
- X-Linked Recessive
- Signs and Symptoms
- Hyperammonemia
- Decreased BUN
- Carbamoyl Phosphate is Converted to Orotic Acid
- Pyrimidine Synthesis Pathway
- Evident in Babies
3 mins
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