Methylmalonic acidemia associated with distal renal tubular acidosis Distal renal tübüler asidozun eşlik ettiǧi metilmalonik asidemi
Gulhane Medical Journal, cilt.51, sa.1, ss.58-60, 2009 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 51 Sayı: 1
- Basım Tarihi: 2009
- Dergi Adı: Gulhane Medical Journal
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.58-60
- Anahtar Kelimeler: Carnitine, Classical methylmalonic acidemia, Distal renal tubular acidosis, Methylmalonil-CoA mutase, Tandem mass spectrophotometry
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
Methylmalonic acidemia associated with distal renal tubular acidosis Classical methylmalonic acidemia is a metabolic inborn error with methylmalonic acid accumulation due to the methylmalonil-CoA mutase enzyme deficiency. It has two clinical forms as fatal neonatal and benign infantile forms. Although it is typically asymptomatic in infancy, lethargy, vomiting, hypotonia and failure to thrive may be encountered in the situations of increased catabolic state. In this article a case who had previously been diagnosed to have distal renal tubular acidosis at the age of 23 months, and however could only be detected to have methylmalonic acidemia later at the age of 5 years is presented. We emphasize that methylmalonic acidemia should be considered in the secondary causes of distal renal tubular acidosis, and both urine and serum specimens should be analyzed together to diagnose the metabolic inborn errors. © Gülhane Askeri Ti{dotless}p Akademisi 2009.