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Biochem
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
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)
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
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
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
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
Essential Fructosuria
Autosomal Recessive
Defect in fructokinase
Fructose to fructose 1-P
Benign
Fructose appears in blood and urine
Fructose does not enter cells
54 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
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
2 mins
G6PD Mechanism
Turns NADP+ to NADPH
NADPH Used by Glutathione Reductase
Detoxifies Free Radicals and Peroxides
X-linked Recessive
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
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
2 mins
Homocystinuria
Pathophysiology
Autosomal Recessive
4 Forms
Cystathionine Synthase Deficiency
Decreased Affinity of Cystathionine Synthase For Vitamin B6
Dietary Deficiencies Can Elevate Homocysteine Levels
3 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
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
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
Maternal Phenylketonuria
Pathophysiology
Lack of Proper Diet During Pregnancy; Like NutraSweet
Signs and Symptoms
Congenital Heart Defects
Growth Retardation
Intellectual Disability (Mental Retardation)
Microcephaly
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
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
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
Hypopigmentation
2 mins
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