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Distal renal tübüler asidozun eşlik ettiği metilmalonik asidemi

Methylmalonic acidemia associated with distal renal tubular acidosis

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Abstract (2. Language): 
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.
Abstract (Original Language): 
Klasik metilmalonik asidemi, metilmalonil-KoA mutaz enzim eksikliğine bağlı metilmalonik asid birikimi ile giden doğumsal metabolik bir hastalıktır. Fatal neonatal ve benign olmak üzere iki formu olduğu bildirilmiştir. Süt çocukluğu döneminde tipik olarak asemptomatik bir seyir gösterse de, katabolizmanın arttığı durumlarda letarji, kusma, hipotoni ve büyüme bozuklukları ile karşılaşılabilir. Bu yazıda, 23 aylıkken birincil distal renal tübüler asidoz tanısı almış, ancak metilmalonik asidemi tanısının 5 yaşında konduğu bir olgu sunulmaktadır. Distal renal tübüler asidozun ikincil sebepleri arasında metilmalonik asideminin düşünülmesi ve bu tip hastalarda metabolik do- ğumsal anomaliler için kan ve idrar örneklerinin birlikte çalışılmasının önemi vurgulanmaktadır.
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REFERENCES

References: 

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