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A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency

Naohiro Ikeda1, Shinsuke Maruyama1, Kanna Nakano1

  • 1Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.

Molecular Genetics and Metabolism Reports
|May 23, 2017
PubMed

Insights

Carnitine palmitoyltransferase II deficiency, a severe neonatal condition, can be managed with continuous hemodialysis (CHD). This intensive treatment offers prolonged survival beyond 24 months for affected infants.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Carnitine palmitoyltransferase (CPT) II deficiency is a rare genetic metabolic disorder.
  • The early-onset, neonatal form typically results in mortality within the newborn period.
  • Fatty acid oxidation is impaired in CPT II deficiency, leading to energy deficits.

Purpose of the Study:

  • To report a case of neonatal-onset CPT II deficiency with extended survival.
  • To evaluate the efficacy of continuous hemodialysis (CHD) in managing CPT II deficiency crises.
  • To propose intensive treatment strategies for improving outcomes in this condition.

Main Methods:

  • Case report of a patient with genetically confirmed CPT II deficiency.
  • Detailed clinical observation and management, including the application of continuous hemodialysis (CHD).
  • Monitoring of patient's clinical status and response to treatment over an extended period.

Main Results:

  • The patient with neonatal-onset CPT II deficiency survived beyond 24 months.
  • Continuous hemodialysis (CHD) was successfully employed to manage recurrent metabolic crises.
  • The treatment intervention facilitated overcoming life-threatening events.

Conclusions:

  • Neonatal-onset CPT II deficiency can be managed to achieve prolonged survival.
  • Early and intensive treatment, specifically including continuous hemodialysis (CHD), is crucial.
  • This approach offers a potential strategy for improving the prognosis of affected infants.

Keywords:
CPT II deficiencyContinuous hemodialysisHyperammonemiaNeonatal-onsetProlonged survival

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