Franziska Shared "FA Biochemistry" - 39 Picmonics

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FA Biochemistry

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
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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
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1 min
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
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
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4 mins
Von Hippel-Lindau Disease
Pathophysiology
Chromosome 3
Presentation
Hemangioblastomas
Medulla, Retina, Cerebellum
Cysts
Kidney, Liver, Pancreas
Develop Bilateral Renal Carcinomas
Pheochromocytomas
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2 mins
Cystic Fibrosis Mechanisms
Autosomal Recessive
CFTR chromosome 7
Cl- channel defect
Decreased chloride secretion
Increased Na and water reabsorption
Increased Na and Cl in sweat
Dehydration of mucous layers
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2 mins
Fragile X
Pathophysiology
Trinucleotide Repeat
CGG Repeats
FMR1 Gene
X-linked Dominant
Signs and Symptoms
Developmental Delay
Autism
Large Ears
Large Jaw
Long Face
Macroorchidism
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2 mins
Myotonic Dystrophy
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CTG
Signs and Symptoms
Facial Muscle Weakness
Frontal Balding
Sustained Grip
Conduction Defects
Cataracts
Selective Atrophy of Type 1 Fibers
Testicular Atrophy
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2 mins
Edwards Syndrome
Pathophysiology
Trisomy 18
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Rocker Bottom Feet
Ventricular Septal Defect (VSD)
Clenched Hands
Overlapping Fingers
Low-Set Ears
Micrognathia
Prominent Occiput
Omphalocele
Meckel's Diverticulum
Horseshoe Kidney
Malrotation of Intestines
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2 mins
Patau's Syndrome
Trisomy 13
Severe Intellectual Disability (Mental Retardation)
Microcephaly
Holoprosencephaly
Microphthalmia
Polydactyly
Cleft lip/cleft palate
Rocker bottom feet
Cystic kidneys
Ventricular Septal Defect (VSD)
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2 mins
Williams Syndrome
Pathophysiology
Microdeletion Of Long Arm Of Chromosome 7
Elastin Gene
Signs and Symptoms
Elfin Facies
Intellectual Disability (Mental Retardation)
Extreme Friendliness With Strangers
Well Developed Verbal Skills
Cardiovascular Problems
Hypercalcemia
Increased Sensitivity To Vitamin D
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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 (Mental Retardation)
Cardiac Abnormalities
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2 mins
Beriberi (Thiamine Deficiency)
Thiamine deficiency
Dry beriberi
Polyneuritis
Muscle wasting
Wet beriberi
Dilated Cardiomyopathy
Edema
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50 secs
Riboflavin (Vitamin B2)
Classification
Vitamin B2
Biochemistry
FAD
FAD Makes 1.5 ATP
Succinate to Fumarate
DEFICIENCY
Glossitis
Cheilosis
Corneal Vascularization
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2 mins
Pyruvate Dehydrogenase Deficiency
Characteristics
Acquired from Thiamine Deficiency
Backup of Alanine and Pyruvate
Symptoms and Complications
Neurologic Defects
Lactic Acidosis
Interventions
Ketogenic Nutrients
Lysine and Leucine (Ketogenic Nutrients)
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56 secs
G6PD Deficiency
X-linked Recessive
Hemolytic Anemia
Inflammatory Response
Fava Beans
Sulfonamides
Primaquine
Anti TB Drugs
Heinz Bodies
Bite Cells
Prevalent Among African Americans due to Increased Malarial Resistance
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2 mins
Essential Fructosuria
Autosomal Recessive
Defect in fructokinase
Fructose to fructose 1-P
Benign
Fructose appears in blood and urine
Fructose does not enter cells
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53 secs
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
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2 mins
Galactokinase Deficiency
Autosomal Recessive
Galactose to galactose 1P
Galactose appears in blood and urine
Benign
Infantile Cataracts
Failure to develop a social smile
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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
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3 mins

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