about

These acute illness material are guidelines for healthcare professionals treating newborns and children at risk for serious metabolic defects, including urea cycle disorders, fatty acid oxidation disorders, and organic acid disorders.  The materials were developed at Boston Children’s Hospital under the direction of Dr. Harvey Levy, Senior Physician in Medicine/Genetics and Dr. Jonathan Picker, Fragile X Program Director.

For each condition, the materials contain:

• An introduction to the metabolic disorder

• A description of the pathophysiology involved

• Presentation of symptoms in the patient

• Assessments needed for correct diagnosis

• Detailed therapeutic strategies and potential side effects

• A description of recovery in the patient

urea cycle disorders

• Neonate/Infant/Child with Hyperammonemia

• Ornithine Transcarbamylase Deficiency (OTC Deficiency)

• Carbamyl Phosphate Synthetase I Deficiency (CPS I Deficiency)

• Argininosuccinic Acid Synthetase Deficiency (Citrullinemia) (AS)

• Argininosuccinic Acid Lyase Deficiency (ASA)

• Arginase Deficiency

fatty acid oxidation disorders

• Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

• Long Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD)

• Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

organic acid disorders

• Maple Syrup Urine Disease (MSUD)

• Propionic Acidemia

• Methylmalonic Acidemia

• Isovaleric Acidemia

• 3-Methylchrotonyl-CoA (3-MCC) Dehydrogenase Deficiency

• 3-hydroxymethylglutaryl-CoA (3-HMG CoA) Lyase Deficiency