Nora Shared "DMH" - 88 Picmonics
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DMH
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
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
Beriberi (Thiamine Deficiency)
- Thiamine Deficiency
- Dry Beriberi
- Polyneuritis
- Muscle Wasting
- Wet Beriberi
- Dilated Cardiomyopathy
- Edema
51 secs
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
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
Krabbe Disease
- Pathophysiology
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Signs and Symptoms
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Diagnosis
- Globoid 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
Vitamin E Deficiency
- Mechanism
- Antioxidant
- Protects Erythrocytes
- Protects from Free Radical Damage
- Deficiency Signs and Symptoms
- Hemolytic Anemia
- Posterior Column
- Spinocerebellar Tract
2 mins
Biotin (Vitamin B7)
- Mechanism
- Carboxylation Reaction
- Pyruvate Carboxylation to Oxaloacetate
- Propionyl-CoA Carboxylation to Methylmalonyl-CoA
- Acetyl-CoA Carboxylation to Malonyl CoA
- Deficiency Causes
- Antibiotic Use
- Ingestion of Raw Eggs
- Signs & Symptoms
- Alopecia
- Dermatitis
- Enteritis
2 mins
Adenosine Deaminase Deficiency
- Adenosine to Inosine
- Excess ATP
- Inhibition of Ribonucleotide Reductase
- Prevents DNA Synthesis
- Decreases B Cells and T Cells
- Major cause of SCID
1 min
Classic Galactosemia
- Pathophysiology
- Autosomal Recessive
- Galactose-1-phosphate uridyltransferase is Absent (GALT)
- Impaired Galactose-1-P to UDP-Galactose
- Galactitol Accumulation in Lens
- Signs and Symptoms
- Infantile Cataracts
- Failure to Thrive
- Hepatomegaly
- Jaundice
- Intellectual Disability
- Increased Risk E. Coli Sepsis
2 mins
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
Fructose Intolerance
- Pathophysiology
- Deficiency of Aldolase B
- Fructose 1-P To DHAP And GA
- Accumulation Of Fructose-1-Phosphate
- Inhibition Of Glycogenolysis
- Inhibition Of Gluconeogenesis
- Clinical Features
- Hypoglycemia
- Vomiting
- Jaundice
- Cirrhosis
- Autosomal Recessive
2 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
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
Lesch-Nyhan Syndrome
- X-linked Recessive
- Absence of HGPRT
- Hypoxanthine to IMP
- Guanine to GMP
- Excess uric acid
- Gout
- Retardation
- Self-mutilation
- Choreoathetosis
- PRPP is increased
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
