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European Journal of Pediatrics

, Volume 167, Issue 8, pp 941–944 | Cite as

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review

  • Ting-Yu Yen
  • Wuh-Liang Hwu
  • Yin-Hsiu Chien
  • Mei-Hwan Wu
  • Ming-Tai Lin
  • Lon-Yen Tsao
  • Wu-Shiun Hsieh
  • Ni-Chung Lee
Short Report

Abstract

Barth syndrome presents in infancy with hypotonia, dilated cardiomyopathy, and neutropenia. We report a patient whose family history included two males who had died suddenly at the age of 15 days and 2 years, respectively. The index case presented with acute metabolic decompensation at 13 days of age. Within 8 h of presenting with metabolic acidosis (pH 7.13), lactic acidemia (18.5 mmol/l), hyperammonemia (375 μg/dl), hypoglycemia (25 mg/dl), and coagulopathy, the patient developed respiratory failure and required intubation. The diagnosis was established by the presence of left ventricular noncompaction and molecular analysis (c.C153G or Y51X mutation of the TAZ gene). The gene product, taffazin, is a homologue of the glycerolipid transferases involved in the phospholipid metabolism as tetralinoleoyl-cardiolipin, a component of the mitochondrial inner membrane. In conclusion, mutations in taffazin impair mitochondrial respiratory chain complexes, which may results in the acute metabolic decompensation and sudden death; cardiac transplantation is the only possibility at the present time.

Keywords

Barth syndrome Metabolic decompensation Lactic acidosis Left ventricle noncompaction 

Abbreviations

DGUOK

deoxyguanosine kinase

LDB3

LIM domain-binging protein

LVNC

left ventricular noncompaction

LVEF

left ventricular ejection fraction

MRI

magnetic resonance imaging

PLOG

polymerase gamma

TAZ

taffazin

TK2

thymidine kinase 2

Notes

Acknowledgement

We would like to thank Doctor Michael Schlame and Salvatore DiMauro at Columbia University, New York, for measuring this patient’s cardiolipin level.

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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Ting-Yu Yen
    • 1
  • Wuh-Liang Hwu
    • 1
    • 2
  • Yin-Hsiu Chien
    • 1
    • 2
  • Mei-Hwan Wu
    • 1
  • Ming-Tai Lin
    • 1
  • Lon-Yen Tsao
    • 3
  • Wu-Shiun Hsieh
    • 1
  • Ni-Chung Lee
    • 1
    • 2
    • 4
  1. 1.Department of PediatricsNational Taiwan University Hospital and National Taiwan University College of MedicineTaipeiTaiwan
  2. 2.Department of Medical GeneticsNational Taiwan University Hospital and National Taiwan University College of MedicineTaipeiTaiwan
  3. 3.Department of PediatricsChanghua Christian HospitalChanghuaTaiwan
  4. 4.Department of PediatricsNational Taiwan University HospitalTaipeiTaiwan

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