RESUMEN
We report a case of glycogen storage disease type 1b that was successfully treated with bone marrow transplantation after life-threatening complications related to neutropenia and thrombocytopenia. Concomitant reduction in inflammatory bowel disease-related symptoms and improved metabolic stability were also observed.
Asunto(s)
Trasplante de Médula Ósea/métodos , Enfermedad del Almacenamiento de Glucógeno Tipo I/terapia , Niño , Consanguinidad , Glucosa-6-Fosfatasa/genética , Enfermedad del Almacenamiento de Glucógeno Tipo I/diagnóstico , Homocigoto , Humanos , Lactante , Masculino , Mutación , Neutropenia/metabolismo , Resultado del TratamientoRESUMEN
OBJECTIVE: To determine the spectrum of presentation, including both clinical and biochemical abnormalities, and the clinical course in a cohort of patients with complete mitochondrial trifunctional protein (MTP) deficiency, a rare inborn error of mitochondrial fatty acid oxidation. STUDY DESIGN: A questionnaire was sent to the referring physicians from 25 unselected MTP-deficient patients. RESULTS: Twenty-one patients could be included. Questionnaires about four patients were not returned. Nine (43%) patients presented with rapidly progressive clinical deterioration; six (67%) of them had hypoketotic hypoglycemia. The remaining 12 patients presented with a much more insidious disease with nonspecific chronic symptoms, including hypotonia (100%), cardiomyopathy (73%), failure to thrive, or peripheral neuropathy. Ten patients (48%) presented in the neonatal period. Mortality was high (76%), mostly attributable to cardiac involvement. Two patients who were diagnosed prenatally died despite treatment. CONCLUSION: Complete MTP deficiency often presents with nonspecific symptomatology, which makes clinical recognition difficult. Hypotonia and cardiomyopathy are common presenting features, and the differential diagnosis of an infant with these signs should include MTP deficiency. In spite of early diagnosis and treatment, only a few patients with this condition have survived.
Asunto(s)
Errores Innatos del Metabolismo Lipídico/diagnóstico , Complejos Multienzimáticos/deficiencia , Cardiomiopatías/etiología , Cardiomiopatías/metabolismo , Progresión de la Enfermedad , Femenino , Cardiopatías/etiología , Cardiopatías/metabolismo , Humanos , Lactante , Recién Nacido , Masculino , Proteína Trifuncional Mitocondrial , Hipotonía Muscular/etiología , Hipotonía Muscular/metabolismoRESUMEN
It is believed that liver transplantation may improve the outcome of early onset methylmalonic acidemia. We report a case of methylmalonic acidemia in which successful liver transplantation in infancy failed to prevent neurologic damage caused by a metabolic stroke.