RESUMEN
We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens. These cases emphasize the importance of a complete evaluation, including biochemical confirmation, for patients with suspected metabolic storage diseases.
Asunto(s)
Glucógeno Hepático/metabolismo , Hígado/metabolismo , Enfermedades de Niemann-Pick/metabolismo , Preescolar , Diagnóstico Diferencial , Femenino , Enfermedad del Almacenamiento de Glucógeno/diagnóstico , Humanos , Lactante , Masculino , Enfermedades de Niemann-Pick/diagnósticoRESUMEN
STUDY OBJECTIVE: The discovery of pancreatitis in two children with methylmalonic acidemia led us to review the experience with pancreatitis in a large number of patients with organic acidemias to determine whether pancreatitis is an important complication of these disorders. DESIGN: Case series. SETTING: Pediatric metabolism services at five tertiary care centers. PATIENTS: Records of all patients with organic acidemias followed at the five institutions during the past 10 years were reviewed. Pancreatitis was recognized by symptoms and laboratory findings and confirmed by imaging studies, surgery, or autopsy. At three institutions all cases of pancreatitis in children younger than 10 years were reviewed. MEASUREMENTS AND RESULTS: Nine children with pancreatitis (seven with acute and two with chronic cases) were identified among 108 children with branched-chain organic acidemias. They ranged in age from 13 months to 9 years. Five had methylmalonic acidemia, three had isovaleric acidemia, and one had maple syrup urine disease. There were three deaths; acute hemorrhagic pancreatitis occurred in two children, and chronic pancreatitis was found at autopsy in a third. All three patients with isovaleric acidemia and pancreatitis were identified after the occurrence of pancreatitis. The survey of pancreatitis at three institutions found 57 other patients (none with an inborn error) in addition to three patients with inborn errors included in this study. CONCLUSIONS: Acute or chronic pancreatitis may complicate branched-chain organic acidemias and must be considered in the assessment of patients with these disorders who have acute clinical deterioration and vomiting, abdominal pain, encephalopathy or shock, or milder symptoms. Conversely, an inborn error of organic acid metabolism should be considered in children with pancreatitis of unknown origin.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/complicaciones , Oxidorreductasas actuantes sobre Donantes de Grupo CH-CH , Pancreatitis/etiología , Enfermedad Aguda , Niño , Preescolar , Enfermedad Crónica , Femenino , Humanos , Lactante , Recién Nacido , Isovaleril-CoA Deshidrogenasa , Masculino , Enfermedad de la Orina de Jarabe de Arce/complicaciones , Ácido Metilmalónico/orina , Oxidorreductasas/deficienciaRESUMEN
Although propionic acidemia and methylmalonic acidemia, two disorders of branched-chain amino acid metabolism often complicated by chronic anorexia and vomiting, are not usually treated with parenteral nutrition for fear of amino acid overload and exacerbation of biochemical derangements, we gave long-term parenteral nutrition to two critically ill patients with these disorders. Health and growth were restored, and there was minimal production of abnormal metabolites. The dramatic clinical and biochemical improvement of these patients bolsters the concept that most of the toxic metabolites produced in these diseases are not related to the administered load of nutrient precursors, but rather to endogenous turnover of amino acids, particularly during a chronic catabolic state. Suppression of catabolism can produce striking biochemical and clinical improvement. With appropriate monitoring, parenteral nutrition can be used safely in the management of patients with these disorders.