Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations
PBN-AR
Instytucja
Instytut "Pomnik - Centrum Zdrowia Dziecka"
Informacje podstawowe
Główny język publikacji
angielski
Czasopismo
Molecular Genetics and Metabolism Reports
ISSN
EISSN
2214-4269
Wydawca
Elsevier
Rok publikacji
2020
Numer zeszytu
March
Strony od-do
e100559
Numer tomu
22
Identyfikator DOI
Liczba arkuszy
Słowa kluczowe
angielski
MMAA
CblA
Hydroxocobalamin
Renal failure
Open access
Tryb otwartego dostępu
Otwarte czasopismo
Wersja tekstu w otwartym dostępie
Wersja opublikowana
Licencja otwartego dostępu
Creative Commons — Uznanie autorstwa
Czas opublikowania w otwartym dostępie
Razem z publikacją
Data udostępnienia w sposób otwarty
2020-01-08
Streszczenia
Język
angielski
Treść
Introduction Methylmalonic Aciduria (MMA) is a heterogeneous group of rare diseases leading to accumulation of methylmalonic acid in body fluids. One of the causes of the disease is the methylmalonic aciduria, cblA type (cblA – type MMA), conditioned by a mutation in the MMAA gene, which is essential for the proper functioning of a cofactor of the methylmalonyl-CoA mutase. The symptoms of the disease, depending on the cause, may manifest themselves at different ages. Most patients are sensitive to high doses of hydroxycobalamin, which is associated with better prognosis. Material and method The purpose of the study was to retrospectively analyze the clinical picture and effects of treatment of patients with methylmalonic aciduria related to mutation in the MMAA gene. Results Five patients with diagnosed cblA – type MMA were presented. At the time of diagnosis the median of age was 18.8 months, but the symptoms had already appeared since infancy, as recurrent vomiting and delayed psychomotor development. Significant excretion of methylmalonic acid in urine and metabolic acidosis traits with significantly increased anionic gap were observed in all patients. All of them were sensitive to the treatment with vitamin B12. The median of therapy duration and observation is 12.2 years. During the treatment, good metabolic control was achieved in all patients, but their cognitive development is delayed. Three patients have renal failure and pharmacologically treated arterial hypertension. Conclusions Patients with a mutation in the MMAA gene are sensitive to treatment with hydroxocobalamine, but the inclusion of appropriate treatment does not protect against neurodevelopmental disorders and chronic kidney disease.
Cechy publikacji
case-report
Inne
System-identifier
PX-5e303c13d5de9c8fdafd5577
CrossrefMetadata from Crossref logo
Cytowania
Liczba prac cytujących tę pracę
Brak danych
Referencje
Liczba prac cytowanych przez tę pracę
Brak danych