We report two patients with methylmalonic acidemia (MMA) in whom renal biopsy demonstrated interstitial nephritis, bringing the total of such reported cases to four. In addition, hypertension, observed in one of our patients, has not been previously reported as the presentation of renal disease in MMA. The etiology of interstitial nephritis in MMA did not appear to be due to urate nephropathy. To date, 15 patients with MMA have been reported with renal complications, including chronic renal failure, making it imperative that children with MMA have their renal status evaluated.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/BF00861581 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Short and Long-Term Outcomes of Liver Transplantation in Pediatric Patients With Inborn Errors of Metabolism: A Single-Center Study.
Pediatr Transplant
May 2025
Department of General Surgery, Başkent University Faculty of Medicine, Ankara, Turkey.
Background: Inborn errors of metabolism (IEMs) are inherited diseases causing significant morbidity and mortality, particularly in childhood. Liver transplantation (LT) can be curative or partially effective for these diseases. LT for IEMs has increased, making IEMs the second most common reason for pediatric LT after biliary atresia.
View Article and Find Full Text PDFMitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria.
Commun Biol
March 2025
Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, CH-8032, Switzerland.
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA in the central nervous system is poorly understood, which has contributed to a dearth of effective brain specific treatments. Here we utilised patient-derived induced pluripotent stem cells and in vitro differentiation to generate a human neuronal model of MMA.
View Article and Find Full Text PDFCostunolide Ameliorates the Methylmalonic Acidemia Via the PINK1/Parkin Pathway.
Neurochem Res
March 2025
Graduate School of Hebei, University of Chinese Medicine, Shijiazhuang, China.
Methylmalonic acidemia (MMA) is a congenital organic acidemia characterized by mitochondrial dysfunction due to the abnormal accumulation of intermediate metabolites, which subsequently leads to brain damage. Currently, there are no specific pharmacological treatments available for MMA in clinical practice. Costunolide (COS) is a sesquiterpenoid compound derived from Radix Aucklandiae, it exhibits a broad spectrum of bioactivities.
View Article and Find Full Text PDFEpidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran.
Orphanet J Rare Dis
February 2025
Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Background: Newborn screening is essential for the early detection of congenital genetic and metabolic disorders, enabling timely intervention to prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders (IMDs). The Iranian Neonatal Screening Program piloted in Fars Province, screening nearly 100% of neonates for 20 disorders. This study aimed to assess the epidemiology of these metabolic diseases.
View Article and Find Full Text PDFRetinal dimples in a case of adult-onset methylmalonic acidemia with homocystinuria: A new finding.
J Fr Ophtalmol
February 2025
Department of Ophthalmology, Virgen del Rocío University Hospital, Av. Manuel Siurot, 41013 Seville, Spain.
Purpose: To describe the ophthalmic clinical manifestations in a woman with adult-onset methylmalonic acidemia with homocystinuria, including retinal dimples as a new retinal finding.
Methods: Observational case report of a 25-year-old woman. Clinical manifestations and diagnostic tests are described.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!