Allied Metabolic Disorders

Website Links & Support Group Information

Our PKU organization welcomes your family coping with a metabolic condition that requires therapeutic treatment with specialized formulas and protein-restricted therapeutic diets.  We hope to collaborate and work with you to plan local educational and support programs as you work with the Illinois metabolic clinics.    Our organization intends to identify resources, promote research, increase public awareness, and advocate for enhanced metabolic services within our state, region, and nation.

Allied Inherited Metabolic disorders, identified in Illinois Newborn Screening Program, which are included in the PKU Organization of Illinois Bylaws are:

Amino Acid  Disorders: Organic Acid Disorders: Urea Cycle Disorders:
Phenylketonuria and Hyperphenyalanemia (PKU) Beta- ketothiolase deficiency (BKT) Argininemia
Maple Syrup Urine Disease (MSUD) Glutaric Aciduria type 1 (GA1) Citrullinemia
Tyrosinemia (TYR) Isovaleric acidemia (IVA) Argininosuccinic aciduria (ASA)
Homocysteinuria (HCU) Propionic acidemia (PA)  
  Malonic aciduria (MA)  
  Methylmalonic acidemia (MMA)  
  Multiple carboxylase deficiency ((MCD)  
  2-methylbutyryl-COA deficiency (MCD)  
  3-methylcrotonyl-COA carboxylase deficiency (3MCC)  
  3-hydroxy-3-methylglutaryl-COA lyase deficiency (HMG)  
  3-methylglutaconic aciduria (3MGA)  


Given that these conditions require life-long treatment from infancy through adulthood, we hope to work with you locally to support awareness, research and promote collaboration with national affiliate organizations when feasible. Please use the following links to receive more information about the Illinois Newborn Screening Program and Affiliate Metabolic Organizations.

Illinois Department of Public Health (IDPH) Website

The following link you to the IDPH Newborn Screening Fact Sheets for Each Disorder


Amino Acid Disorders:
Phenylketonuria and Hyperphenyalanemia (PKU)

MapleSyrup Urine Disease(MSUD)

Tyrosinemia

Organic Acid Disorders:

Information on IDPH
Beta- ketothiolase deficiency (BKT)
Glutaric Aciduria type 1 (GA1) -
Isovaleric acidemia (IVA) - no sheet on IDPH
Propionic acidemia (PA)
Malonic aciduria (MA)
Methylmalonic acidemia (MMA)
Multiple carboxylase deficiency ((MCD)
2-methylbutyryl-COA deficiency (MCD)
3-methylcrotonyl-COA carboxylase deficiency (3MCC)
3-hydroxy-3-methylglutaryl-COA lyase deficiency (HMG)
3-methylglutaconic aciduria (3MGA)

Urea Cycle Disorders:
Information on IDPH
Argininemia
Citrullinemia
Argininosuccinic aciduria (ASA)

 

Support Groups:

Amino Acid Disorders

MSUD Family Support Group
Powell, Ohio
Phone: 614-389-2739
Email: director@msud-support.org
Web-site:   http://www.msud-support.org/

Organic Acid Disorders:

Propionic Acidemia Foundation (PAF)   
1963 McCraren
Highland Park, IL 60035
Toll Free Phone/Fax Number: 877-720-2192
Email:  paf@pafoundation.com
Web-site: www.pafoundation.com

Organic Acidemia Association – (OAA)

P.O. Box 1008
Pinole, CA 94564
Email: carolbarton@oaanews.org
Phone: 510-672-2476 (West Coast Time)
Toll Free Fax Number  866-539-4060
Web-site:  www.oaanews.org

Urea Cycle Disorders:  

The National Urea Cycle Disorders Foundation (NUCDF)
75 South Grand Avenue
Pasadena, California  91105
Phone: (626)578-0833
Toll-Free:  (800)38-NUCDF (386-8233)
Fax: (626)578-0823
Email: info@nucdf.org
Website:  www.nucdf.org