Metabolic Consortium

Project Lead: Janet Thomas, MD

Project Summary

The MSGRC Metabolic Consortium (MC) is dedicated to improving the early identification and long term outcome of newborns with metabolic disorders by establishing a model system of cooperation and collaboration among regional health care and public health partners. The MC facilitates the continued integration of advancements in newborn screening, evidenced based medicine, genomic medicine, and informatics to enhance and improve the newborn screening process and patient care so that all children may attain their highest potential and optimal functioning.

Disease-specific Care Plans and Shared Datasets & Parent Handouts

• Galactosemia

Biotinidase

• Profound biotinidase dificiency
• Partial biotinidase deficiency

Amino Acidemias / Urea Cycle Disorders

• PKU
• Hyperphenylalanenemia
• Argininemia
• Argininosuccinic Acid Lyase Deficiency
• Citrullinemia
• Homocystinuria
• Hypermethioninemia (MAT 1 deficiency)
• Maple Syrup Urine Disease
• Tyrosinemia, Type 1
• Tyrosinemia, Type II and III

Organic Acidemias

• Glutaric Acidemia, Type I
• Isovaleric Acidemia
• Methylmalonic Acidemia
  • Methylmalonic acidemia –Mutase, Cbl A, and Cbl B
  • Methylmalonic acidemia with homocystinuria –Cbl C, Cbl D, and Cbl F
• Propionic Acidemia
• 3-Methylcrotonyl CoA Carboxylase Deficiency (3-MCC)
• Holocarboxylase Deficiency (HCD)
• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG-CoA)
• Beta-ketothiolase Deficiency (BKT)
• Maternal B12 deficiency
• Malonic Acidemia
• 3-Methylglutaconic Acidurias (not yet reviewed)

Fatty Acid Oxidation Disorders

• Multiple acyl-CoA dehydrogenase (MADD) deficiency (Glutaric Acidemia, Type II)
• Short chain acyl-CoA dehydrogenase (SCAD) deficiency
• Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
• Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) and trifunctional protein (TFP) deficiencies
• Very long chain acyl-CoA dehydrogenase deficiency
• Carnitine Transporter Deficiency
• Carnitine-Acylcarnitine Translocase (CACT) Deficiency
• Carnitine palmitoyltransferase I (CPT I) deficiency
• Carnitine palmitoyltransferase II (CPT II) deficiency
• Maternal Carnitine deficiency