METABOLIC ASSESSMENT TYPES OF CLINICAL PRESENTATION OF INBORN ERRORS Toxic Presentation Severe Neonatal Hyperammonemia Moderate Neonatal Hyperammonemia Clinical Hyperammonemia in Later ID: 915964
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Slide1
Slide2Metabolic Disorders
MZ.Zamanpour MD
Slide3METABOLIC ASSESSMENT
Slide4Slide5TYPES 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
Slide6Slide7Slide8Slide9Slide10Slide11Slide12CLINICAL ASSESSMENT
AND LABORATORY TESTING
Slide13Slide14GENETIC ASPECTS OF
INBORN ERRORS
Mechanisms of
Inheritance
Identification of Molecular Pathology
Slide15IDENTIFICATION OF INBORN
ERRORS BY NEONATAL SCREENING
Disorders Identified by Neonatal
Screening
Strategy of Neonatal
Screening
Confirmatory Testing
Principles
Specialized Laboratory and Clinical Testing
Slide16Slide17Slide18OVERVIEW OF TREATMENT
Slide19Slide20Carbohydrate Disorders
GSD
Galactosemia
Slide211346
Slide22GSD
Slide23Galactosemia
Slide24Amino Acid Disorders
PKU
Tyrosinemia
Homocystinemia
MSUD
UCD
Slide25PKU &
Tyrosinemia
Hartnup
Syndrome
Slide26Homocystinuria
&
Cystinuria
Slide27MSUD
Slide28Urea Cycle Disorder (UCD)
Slide29Organic Acid Disorders
Propionic
Acidemia
Methylmalonic
Acidemia
Isovaleric
Acidemia
Glutaric
Acidemia
I
Slide30MMA / PA
Biotidinase
&
Holocarboxilase
Def
Slide31Isovaleric
Acidemia
Slide32Glutaric
Aciduria I & II
Slide33Fat Metabolism disorders
MCAD
LCAD
VLCAD
LCHAD
Glutaric
Aciduria II
Slide34MCAD, LCAD, VLCAD, LCHAD
Slide35LYSOSOMAL
AND
PEROXISOMAL DISORDERS
Slide36Slide37Zelweger
Syndrome
Slide38Mucopolysaccharidosis
Slide39Slide40Slide41Slide42