1,720,999 research outputs found
Liver and liver cell tranplantation for glycogen storage disease type IA
No full textGlycogen storage disease type Ia (GSDIa) is an inherited disorder of glucose metabolism, due to the selective deficiency of the hepatic enzyme glucose-6-phosphatase. Clinical manifestations include severe hypoglycaemia three to four hours post-prandially, increased production of lactic acid, triglycerides and uric acid, hepatic glycogen storage disease with development of multiple adenomas and kidney disease with proteinuria. Liver transplantation is frequently performed in order to achieve metabolic control and when malignant transformation of adenomas is suspected. Long term outcome following transplantation is good, but immunosuppressive therapy can worsen the progression of associated kidney disease. Hepatocyte transplantation could be considered as a less invasive procedure in such patients. Our experience with hepatocyte transplantation in a 47 year-old woman affected by glycogen storage disease type Ia and suffering of severe fasting hypoglycaemia indicates that the procedure can partially correct some metabolic abnormalities and improve the quality of life in this disease. However, the metabolic improvement was reduced and finally abolished during long term follow-up, probably due to rejection or to senescence of transplanted cells. Moreover, the portal and pulmonary hypertension associated with the disease need to be evaluated for their possible influence on haemodynamic changes associated with cell infusion. Finally, hepatic adenomas need careful monitoring because of the possible risk of malignant transformation
Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria.
No full textDIFFUSION-WEIGHTED MRI OF MAPLE SYRUP URINE DISEASE ENCEPHALOPATHY
No full textDIFFUSION-WEIGHTED MRI OF MAPLE SYRUP URINE DISEASE ENCEPHALOPATH
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report
No full textJ Inherit Metab Dis. 2010 Sep 10. [Epub ahead of print]
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
Del Rizzo M, Fanin M, Cerutti A, Cazzorla C, Milanesi O, Nascimbeni AC, Angelini C, Giordano L, Bordugo A, Burlina AB.
Source
Division of Metabolic Diseases, Department of Paediatrics, University Hospital Padua, Via Giustiniani 3, 35128, Padua, Italy.
Abstract
Pompe disease (PD) is a metabolic myopathy caused by a deficiency of acid-alpha glucosidase (GAA), a lysosomal enzyme that cleaves glycogen. The classic infantile-onset form is characterised by severe hypotonia and cardiomyopathy. Untreated patients usually die within the first year of life due to cardiorespiratory failure. Several studies involving patients with infantile-onset PD have shown that enzyme replacement therapy (ERT) with alglucosidase alfa, recombinant human GAA (rhGAA), significantly prolongs survival, decreases cardiomegaly, and improves cardiac function and conduction abnormalities. However, the efficacy on motor, cognitive and social milestones appears to be more related to the condition of the patient before the start of treatment. To date, the sample of early diagnosed and treated patients is small and the length of follow-up is still limited. We report the results of a long-term follow-up of one patient presenting severe bradycardia and cardiomyopathy at birth, diagnosed in the third day of life and successfully treated by ERT. Serum muscle enzymes at diagnosis were AST 200 U/L, ALT 99 U/L and CPK 731 U/L (n.v. 0-295); the molecular study identified the homozygous missense mutation c.1933 G> A p.Asp645Asn (GAA exon 14). Left Ventricular Mass Index (LVMI) at baseline was 171 g/m(2) (Z-score = 4.3) and decreased to normal values since the 3-month follow-up. A muscle biopsy performed at 18 months after the start of therapy, showed only a low degree of muscle involvement. To our knowledge, this is the longest ERT treatment follow-up in a symptomatic neonatal patient with Pompe disease.
PMID:
20830524
[PubMed - as supplied by publisher
Involvement of erythrocyte calpain in glycine- and carnitine-treated isovaleric acidemia.
No full textInvolvement of erythrocyte calpain in glycine- and carnitine-treated isovaleric acidemia.
No full textAssessment of nephrotoxicity of high-cumulative dose of liposomal amphotericin B in a pediatric patient who underwent allogeneic bone marrow transplantation.
No full textWe describe a 9-yr-old boy who received the highest cumulative dose so far reported of liposomal amphotericin B.The patient underwent an allogeneic bone marrow transplantation (BMT) for adrenoleucodystrophy, after a conditioning regimen with busulfan, thiothepa and cyclophosphamide. Rabbit antithymoglobulin, cyclosporin and prednisone were used as prophylaxis against graft vs. host disease (GVHD). Post-transplant Epstein-Bar-virus-related lymphoma was diagnosed on day +68 and was treated with donor-derived lymphocytes. The patient developed a severe form of GVHD, and a progressive worsening of his neurological status because of progression of his underlying disease. Death from septic shock occurred 23 months after BMT. During prolonged hospitalization, 19 750 mg of liposomal amphotericin B, about 1000 mg/kg, were given for prophylactic or empirical therapeutic purposes without significant nephrotoxicity. This case suggests that liposomal amphotericin B is safe and well-tolerated even if is administered for long periods and a cumulative dose fivefold greater than the nephrotoxic threshold of amphotericin B deoxycholate is achieved
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