DOCTORS

Acylcarnitine Profile – Fatty Acid Oxidation Disorders

• Carnitine / Acylcarnitine Translocase Deficiency (CACT)
• 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency (LCHAD)
• Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
• Neonatal Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)
• Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
• Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency (SCHAD)
• Carnitine Palmitoyl Transferase Deficiency Type I * (CPT-I)
• 2,4-Dienoyl-CoA Reductase Deficiency * (DE-RED)
• Multiple Acyl-CoA Dehydrogenase Deficiency (GA-II)
• Short-chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
• Trifunctional Protein Deficiency (TFP)

Acylcarnitine Profile – Organic Acid Disorders

• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG)
• Glutaric Acidemia Type I (GA-I)
• Isobutyryl-CoA Dehydrogenase Deficiency (IBG)
• Isovaleric Acidemia (IVA)
• 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBG)
• 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
• Malonic Aciduria (MAL)
• Methylmalonic Acidemias (MMA)
  • Methymalonyl-CoA Mutase Deficiency (MUT)
  • Some Adenosylcobalamin Synthesis Defects (CBL A,B)
  • Some Adenosylcobalamin Synthesis Defects (CBL C,D)
  • Maternal Vitamin B12 Deficiency
• Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (BKT)
• Propionic Acidemia (PROP)
• Multiple CoA Carboxylase Deficiency (MCD)

Amino Acid Profile – Amino Acid Disorders

• Argininemia (ARG)
• Argininosuccinic Aciduria (ASA)
• 5-Oxoprolinuria * (5-OXO)
• Carbamoylphosphate Synthetase Deficiency * (CPS)
• Citrullinemia (CIT-I)
• Homocystinuria (HCY)
• Hypermethioninemia * (MET)
• Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome * (HHH)
• Hyperornithinemia with Gyral Atrophy (HOGA)
• Maple Syrup Urine Disease (MSUD)
• Phenylketonuria (PKU)
  • Classical Phenylketonuria
  • Hyperphenylalaninemia
  • Biopterin Defect in Cofactor Biosynthesis
  • Biopterin Defect in Cofactor Regeneration
• Tyrosinemia (TYR)
  • Transient Neonatal Tyrosinemia
  • Tyrosinemia Type I * (TYR I)
  • Tyrosinemia Type II (TYR II)
  • Tyrosinemia Type III (TYR III)

Lysosomal Storage Disorders (LSD)

• Fabry Disease
• Gaucher Disease
• Pompe Disease
• Krabbe Disease
• Hurler Syndrome
• Niemann Pick A/B Disease

Other Disorders

• Hyperalimentation
• Medium Chain Triglyceride Oil Administration (MCT)
• Treatment with Benzoate, Pyvalic Acid, or Valproic Acid
• Liver Disease
• Presence of EDTA coagulants in blood specimen
• Carnitine Uptake Deficiency (CUD)
  *There is a lower probability of detection of this disorder during the immediate newborn period.

• Congenital Hypothyroidism (CH)
• Congenital Adrenal Hyperplasia (CAH)
• Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
• Galactosemia (GALT)
• Biotinidase (BIOT)
• Phenylketonuria (PKU)
• Cystic Fibrosis (CF)
• Hemoglobinopathies (Hb)
• SMA