These acute illness protocols are guidelines for healthcare professionals treating newborns at risk for serious metabolic defects, including urea cycle disorders, fatty acid oxidation disorders, and organic acid disorders. The protocols were developed under the direction of Dr. Harvey Levy, Senior Physician in Medicine/Genetics at Children’s Hospital Boston, and Dr. Jonathan Picker, Director of Children’s Hospital Boston’s Fragile X Program.
Each protocol contains:
- 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
These emergency protocols are intended as guidelines only, and should not be used for definitive treatment without metabolic consultation. Please read our Terms of Use.
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)
Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)
Deficiencia de la Deshidrogenasa del Acil-CoA de Cadena Corta (SCADD)
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
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