Biochemical aspects of some diseases – 28 clinical cases

Biochemical aspects of some diseases – 28 clinical cases

Globular proteins
– Clinical Case 1 – Sickle Cell Anemia
– Clinical case 2 – Beta thalassemia
Carbohydrate metabolism
– Clinical case 3 – Pyruvate dehydrogenase deficiency
– Clinical case 4 – Rivulate carboxylase deficiency
– Clinical case 5 – Hereditary fructose-1,6-bisphosphatase deficiency
– Clinical Case 6 – Glycogenesis
– Clinical case 7 – Type I diabetes
– Clinical case 8 – Myocardial infarction in type II diabetes
– Clinical case 9 – Hereditary fructose intolerance
– Clinical case 10 – Galactosemia
Exchange of lipids
– Clinical case 11 – Hyperlipoproteinemia type 1
– Clinical Case 12 – Familial Hyperlipoproteinemia Type 2
– Clinical case 13 – Sphingolipidosis
Amino acid metabolism
– Clinical case 14 – Defect in urea cycle enzymes
– Clinical case 15 – Phenylketonuria
– Clinical case 16 – Homocystinuria
– Clinical Case 17 – Methylmalonic Acidemia
Digestion
– Clinical case 18 – Acute pancreatitis
Nucleotide exchange
– Clinical Case 19 – Gout
– Clinical case 20 – Severe combined immunodeficiency
– Clinical Case 21 – Dihydrofolate reductase deficiency
Porphyrin metabolism
– Clinical case 22 – Intoxication
Iron metabolism
– Clinical case 23 – Hemochromatosis
Intercellular signaling
– Clinical Case 24 - Cholera
DNA, RNA, protein biosynthesis
– Clinical Case 25 – Encephalitis caused by herpes simplex virus
– Clinical Case 26 – Xeroderma Pigmentosum
– Clinical Case 27 – Diphtheria
– Clinical Case 28 – Cystic Fibrosis