Yalaki, Z Sağlık Bakanlığı - Ankara Eğitim ve Arastırma Hastanesi - Çocuk Sağlığı ve Hastalıkları, Turkey , Arıkan, F İ Sağlık Bakanlığı - Ankara Eğitim ve Arastırma Hastanesi - Pediatri Kliniği, Turkey , Tapçı, E Sağlık Bakanlığı - Ankara Eğitim ve Araştırma Hastanesi - Çocuk Sağlığı ve Hastalıkları Kliniği, Turkey , Altan, B Sağlık Bakanlığı - Ankara Eğitim ve Araştırma Hastanesi - Çocuk Sağlığı ve Hastalıkları Kliniği, Turkey , Dallar Bilge, Y Sağlık Bakanlığı - Ankara Eğitim ve Araştırma Hastanesi - Çocuk Sağlığı ve Hastalıkları Kliniği, Turkey

3-OH-3-methyl glutaric aciduria: A metabolic disease that could be confused with Reye’s syndrome

14796

3-OH-3-methyl glutaric aciduria is a metabolic disease that shows autozomal recessive heredity and presents with life threatening hypoglycemia attacks in the first few years of life. Here, a case of metabolic attack developed after an infection is presented. A case of a five months old male infant was brought to our hospital with complaints of vomiting and diarrhea. His mother and father were relatives. The general condition of the patient was poor with tachypnea, hypotonia and he also had hepatomegaly. Laboratory findings were: leucocyte 35.400/mm³, hemoglobin: 9.6 g/dL, hematocrit: %29.3, thrombocyte: 559.000/ mm3; blood glucose: 32 mg/dL, aspartate aminotransferase: 587 U/L, alanine aminotransferase: 582 U/L, total bilirubin: 1.6 mg/dl, direct bilirubin: 0.6 mg/dl. Artery blood gas findings were pH: 7.36, pCO2: 17.1, pO2: 89.3, HCO3: 9.6, serum ammonia level: 205 mcg/dL. Urine blood amino acid analysis findings showed an increase in the excretion of 3-OH valeric acid, 3-methyl glutaconic acid, and a 3-OH-3-methly glutaric acid. It should be remembered that hereditary metabolic diseases are not rare and metabolic diseases should be considered in patients with clinical findings of sepsis or Reye’s syndrome.

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3 , OH , 3 , methyl glutaric aciduria , hypoglycemia , Reye’s syndrome , metabolic disease

Ege Journal Of Medicine

113