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Clear Benefit
from Early Detection
Primary Disorders
Amino Acid Disorders
Argininocuccinyl-CO A lysase deficiency (ASAL deficiency
Homocystinuria/ cystathionine beta-synthase deficiency (CBS deficiency)
Organic Acid Disorders
Methylmelonic acidemia (Cbl A, B)
Multiple Carboxylase deficiency (MCD)
Fatty Acid Oxidation Disorders
Carnitine transporter deficiency
Carnitine palmitoyl transfer deficiency-type 1 (CPT-1 deficiency)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD deficiency)
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)
Secondary Disorders
Homocitrulinuria hyperomithinenia, hyperammonemia -HHH
Hyperornithinemia with gyrate atrophy of the cornea and retina
Tyrosenemia Type I (TYR-1)
MANDATORY SCREENING
Primary Disorder
Amino Acid Disorder
Biopterin Disorders (4)
Hyperphenylalaninemia -Classical Phenylketonuria (PKU)
Hyperphenylalaninemia -Variant PKU |
