Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report

• Main Authors: Luciano De Simone (Author), Laura Capirchio (Author), Rosa Maria Roperto (Author), Paola Romagnani (Author), Michele Sacchini (Author), Maria Alice Donati (Author), Maurizio de Martino (Author)
• Format: Book
• Published: BMC, 2018-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare. Case presentat...