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Transcript 
Metabolic Disorders
MZ.Zamanpour MD
METABOLIC ASSESSMENT
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
CLINICAL ASSESSMENT AND
LABORATORY TESTING
GENETIC ASPECTS OF INBORN
ERRORS
Mechanisms of Inheritance
Identification of Molecular Pathology
IDENTIFICATION OF INBORN
ERRORS BY NEONATAL SCREENING
Disorders Identified by Neonatal Screening
Strategy of Neonatal Screening
Confirmatory Testing Principles
Specialized Laboratory and Clinical Testing
OVERVIEW OF TREATMENT
Carbohydrate Disorders
GSD
Galactosemia
1346
GSD
Galactosemia
Amino Acid Disorders
PKU
Tyrosinemia
Homocystinemia
MSUD
UCD
PKU & Tyrosinemia
Hartnup Syndrome
Homocystinuria & Cystinuria
MSUD
Urea Cycle Disorder (UCD)
Organic Acid Disorders
Propionic Acidemia
Methylmalonic Acidemia
Isovaleric Acidemia
Glutaric Acidemia I
MMA / PA
Biotidinase & Holocarboxilase Def
Isovaleric Acidemia
Glutaric Aciduria I & II
Fat Metabolism disorders
MCAD
LCAD
VLCAD
LCHAD
Glutaric Aciduria II
MCAD, LCAD, VLCAD, LCHAD
LYSOSOMAL
AND
PEROXISOMAL DISORDERS
Zelweger Syndrome
Mucopolysaccharidosis
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