metabolic diseases

2. Metabolic Disorders
MZ.Zamanpour MD

3. METABOLIC ASSESSMENT

5. TYPES OF CLINICAL PRESENTATION
OF INBORN ERRORS
 Toxic Presentation
 Severe Neonatal Hyperammonemia
 Moderate Neonatal Hyperammonemia
 Clinical Hyperammonemia in Later Infancy and Childhood
 Specific Organ Presentation
 Energy Deficiency
 Ketosis and Ketotic Hypoglycemia
 Disorders Associated with DysmorphicFindings
 Storage Disorders

12. CLINICAL ASSESSMENT AND
LABORATORY TESTING

14. GENETIC ASPECTS OF INBORN
ERRORS
Mechanisms of Inheritance
Identification of Molecular Pathology

15. IDENTIFICATION OF INBORN ERRORS
BY NEONATAL SCREENING
Disorders Identified by Neonatal Screening
Strategy of Neonatal Screening
Confirmatory Testing Principles
Specialized Laboratory and Clinical Testing

18. OVERVIEW OF TREATMENT

20. Carbohydrate Disorders
GSD
Galactosemia

21. 1346

22. GSD

23. Galactosemia

24. Amino Acid Disorders
PKU
Tyrosinemia
Homocystinemia
MSUD
UCD

25. PKU & Tyrosinemia
Hartnup Syndrome

26. Homocystinuria & Cystinuria

27. MSUD

28. Urea Cycle Disorder (UCD)

29. Organic Acid Disorders
Propionic Acidemia
Methylmalonic Acidemia
Isovaleric Acidemia
Glutaric Acidemia I

30. MMA / PA
Biotidinase & Holocarboxilase Def

31. Isovaleric Acidemia

32. Glutaric Aciduria I & II

33. Fat Metabolism disorders
MCAD
LCAD
VLCAD
LCHAD
Glutaric Aciduria II

34. MCAD, LCAD, VLCAD, LCHAD

35. LYSOSOMAL
AND
PEROXISOMAL DISORDERS

37. Zelweger Syndrome

38. Mucopolysaccharidosis