Pädiatrie und Therapeutik
Offener Zugang

Abstrakt

Treatment Approach of a Patient Affected by Both Argininosuccinic Aciduria and Methylmalonic Aciduria

Ozlem Unal, Turgay Coskun, Ali Dursun, Aysegul Tokatli, Burcu Hismi, Emine Pektas and Serap H. Sivri

Most of the inborn errors of metabolism (IEM) are autosomal recessively inherited and they are more frequent in the countries where consanguineous marriages are commonly practiced. Rarely, more than one IEM are seen in the siblings of one family or in the same sibling. Here we report a patient with both argininosuccinic aciduria (ASA) and methylmalonic acidemia (MMA) and our therapeutic approach. First sibling of the family died with MMA, second sibling was diagnosed with ASA, and third sibling was diagnosed with both ASA and MMA. Here we report terapeutic approach of this patient. Dietary regimen of the patient was planned with MMA being the basis. When a patient was admitted with a history of sibling with an IEM, possibility of another disorder should always be kept in mind particularly in the countries that consanguineous marriages are commonly practiced.