Abstract
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.
Abstract
3-OH-3-metil glutarik asidüri, otozomal resesif kalıtım gösteren ve yaşamın ilk yılında hayatı tehdit edici hpoglisemi atakları ile seyreden metabolik hastalıktır. Bu yazıda, enfeksiyon sonrası metabolik atak gelişen bir olgu sunulmuştur. Beş aylık erkek hasta kusma, ishal şikayeti ile hastanemize başvurdu. Anne baba arasında akrabalık vardı. Genel durumu kötü, takipneik, hipotonik olan hastanın hepatomegalisi mevcuttu. Laboratuvar incelemelerinde; kanda lökosit 35.400/mm3, hemoglobin: 9.6 g/dL, hematokrit: %29.3, trombosit: 559.000/mm3, kan şekeri: 32 mg/dL, aspartat aminotransferaz: 587 U/L, alanin aminotransferaz: 582 U/L, total bilirübin: 1,6 mg/dL, direk bilirübin: 0.6 mg/dL bulundu. Arter kan gazında; pH: 7.36, pCO2: 17.1, pO2: 89.3, HCO3: 9.6, serum amonyak: 205mcg/dL idi. İdrar kan aminoasitlerinin incelemesi sonucunda; 3-OH valerik asit, 3-metil glutakonik asit ve 3-OH- 3-metil glutarik asit atılımında artış saptandı. Kalıtsal metabolik hastalıkların nadir olmadığı, sepsis veya Reye sendromu benzeri klinik bulgularla başvuran hastalarda metabolik hastalığın mutlaka düşünülmesi gerektiği hatırlanmalıdır.
Details
| Other ID | JA93TD98VD |
|---|---|
| Journal Section | Case Reports |
| Authors | |
| Publication Date | June 1, 2013 |
| Submission Date | June 1, 2013 |
| Published in Issue | Year 2013Volume: 52 Issue: 2 |