Reye sendromu kliniği ile karışabilen metabolik bir hastalık: 3-OH-3-Metil glutarik asidüri

Cilt: 52 Sayı: 2 1 Haziran 2013
  • Yalaki Z
  • Arıkan F İ
  • Tapçı E
  • Altan B
  • Dallar Bilge Y
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3-OH-3-methyl glutaric aciduria: A metabolic disease that could be confused with Reye's syndrome

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.

Keywords

Ayrıntılar

Birincil Dil

Türkçe

Konular

-

Bölüm

-

Yazarlar

Yalaki Z

Arıkan F İ

Tapçı E

Altan B

Dallar Bilge Y

Yayımlanma Tarihi

1 Haziran 2013

Gönderilme Tarihi

1 Haziran 2013

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2013 Cilt: 52 Sayı: 2

IZ

https://izlik.org/JA83YF78CH

Kaynak Göster

RIS / Bibtex
Vancouver
1.Yalaki Z, Arıkan F İ, Tapçı E, Altan B, Dallar Bilge Y. Reye sendromu kliniği ile karışabilen metabolik bir hastalık: 3-OH-3-Metil glutarik asidüri. ETD [Internet]. 01 Haziran 2013;52(2):111-3. Erişim adresi: https://izlik.org/JA83YF78CH

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