RESUMEN
Congenital disorders of glycosylation (CDG) and Niemann-Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile-onset severe liver disease and other multisystemic manifestations. Plasma bile acid and N-palmitoyl-O-phosphocholineserine (PPCS) are screening biomarkers with proposed improved sensitivity and specificity for NPC. We report an infant with ATP6AP1-CDG who presented with cholestatic liver failure and elevated plasma oxysterols and bile acid, mimicking NPC clinically and biochemically. On further investigation, PPCS, but not the bile acid derivative N-(3ß,5α,6ß-trihydroxy-cholan-24-oyl) glycine (TCG), were elevated in plasma samples from individuals with ATP6AP1-, ALG1-, ALG8-, and PMM2-CDG. These findings highlight the importance of keeping CDG within the diagnostic differential when evaluating children with early onset severe liver disease and elevated bile acid or PPCS to prevent delayed diagnosis and treatment.
Asunto(s)
Trastornos Congénitos de Glicosilación , Enfermedad de Niemann-Pick Tipo C , Oxiesteroles , ATPasas de Translocación de Protón Vacuolares , Lactante , Niño , Humanos , Glicosilación , Ácidos y Sales Biliares , HidrolasasRESUMEN
Newborn male circumcision has potential benefits and advantages as well as disadvantages and risks. Families will at times have medical questions regarding newborn male circumcision that clinicians must be prepared to answer.