Paul Shared "Biochem review" - 61 Picmonics

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Biochem review

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
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
Beriberi (Thiamine Deficiency)
Thiamine deficiency
Dry beriberi
Polyneuritis
Muscle wasting
Wet beriberi
Dilated Cardiomyopathy
Edema
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50 secs
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
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2 mins
Citric Acid Cycle (Krebs Cycle)
Characteristics
Acetyl-CoA + Oxaloacetate
Citric Acid
Isocitric Acid
Produces NADH
Alpha-Ketoglutaric Acid
Produces NADH
Succinyl CoA
Produces GTP
Succinate
Produces FADH2
Fumarate
Uses Water
Malate
Produces NADH
Oxaloacetate
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4 mins
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 (Mental retardation)
Increased Risk E. Coli Sepsis
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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)
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4 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
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
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3 mins
Down Syndrome
Pathophysiology
Trisomy 21
Meiotic Nondisjunction
Signs and Symptoms
Intellectual Disability (Mental Retardation)
Simian Crease
Flat Facies
Duodenal Atresia
Hirschsprung's Disease
Septum Primum Type ASD
Endocardial Cushion Defects
Prominent Epicanthal Folds
Increased Risk of Acute Lymphoblastic Leukemia
Alzheimer's Disease
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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
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
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2 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
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1 min
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
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
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1 min
G6PD Mechanism
Turns NADP+ to NADPH
NADPH Used by Glutathione Reductase
Detoxifies Free Radicals and Peroxides
X-linked Recessive
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2 mins
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
Hartnup Disease
Pathophysiology
Autosomal Recessive
Neutral amino acids
Defective Transporter
Renal and Intestinal cells
Signs and Symptoms
Causes tryptophan excretion in urine
Leads to Pellagra
Diarrhea
Dermatitis
Dementia
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2 mins
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
Hunter Syndrome
Pathophysiology
X-linked Recessive
Mucopolysaccharidoses
Iduronate Sulfatase Deficiency
Increased Dermatan Sulfate
Increased Heparan Sulfate
Signs and Symptoms
No Corneal Clouding
Aggressive Behavior
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1 min

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