Vidya Shared "Biochem" - 38 Picmonics

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Biochem

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
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
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
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
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
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
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
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
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
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2 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 (Mental Retardation)
Hypopigmentation
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2 mins
Maternal Phenylketonuria
Pathophysiology
Lack of Proper Diet During Pregnancy; Like NutraSweet
Signs and Symptoms
Congenital Heart Defects
Growth Retardation
Intellectual Disability (Mental Retardation)
Microcephaly
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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
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
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
Zinc Deficiency
Mechanism
Used in Over 100 Enzymes
Zinc Finger Formation
Signs and Symptoms
Delayed Wound Healing
Hypogonadism
Decreased Adult Hair
Dysgeusia
Anosmia
Perioral Rash
Acrodermatitis Enteropathica
Increased Risk in Patients with Cirrhosis
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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
Beighton Criteria
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2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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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
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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
Muscular Dystrophy
Mechanism
X-linked Recessive
Signs and Symptoms
Muscle Weakness
Motor Problems
Gower Sign
Large Calves
Waddling Gait
Loss of Ambulation
Consideration
Cardiac and Respiratory Failure
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2 mins

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