Overview: What every practitioner needs to know Are you sure your patient has a disorder of sterol synthesis? What are the typical findings for this disease? Smith-Lemli-Opitz syndrome Because patients with SLOS can present with a range of clinical severity—from almost normal children with mild developmental delays to intrauterine lethality from multiple organ malformations—a high…
Overview: What every practitioner needs to know Are you sure your patient has a urea cycle defect (UCD)? What are the typical findings for this disease? The urea cycle is made up by six enzymatic reactions that are responsible for the conversion of excess nitrogen into urea. Individual defects in five of these enzymes can…
Overview: What every practitioner needs to know Are you sure your patient has a disorder of branched-chain amino acid metabolism? What are the typical findings for this disease? Disorders of branched-chain amino acid metabolism include maple syrup urine disease (MSUD) and the organic acidemias isovaleric acidemia (IVA), methylmalonic acidemia (MMA), propionic acidemia (PA), 3-methylcrotonyl carboxylase…
