When a common symptom of a neonate become an unusual diagnosis: A case report of HMG-CoA lyase deficiency with a novel mutation

Kasapkara C. S., Akar M., Ozbek M. N., Tuzun H., Akcaboy M., CEYLANER S.

Gazi Medical Journal, cilt.30, sa.3, ss.298-299, 2019 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.12996/gmj.2019.74
  • Dergi Adı: Gazi Medical Journal
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.298-299
  • Anahtar Kelimeler: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency, HMG-CoA lyase deficiency, hypoglycemia, newborn, novel mutation, 3-HYDROXY-3-METHYLGLUTARYL-COENZYME
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

© Copyright 2019 by Gazi University Medical Faculty.3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of metabolism characterized by recurrent metabolic crises caused by fasting, intercurrent illness and excessive physical exercise. Non ketotic hy-poglycemia is normally the cause of primary symptoms but without an immediate treatment the illness can evolve into a worsening metabolic state resembling the Reye's syndrome that may cause the patient's death. We report a neonate with some clinical and therapeutic features not previously described mutation in HMGCL gene. The genetic analysis revealed a novel homozygous c.272T>A(p. Val91Asp) mutation in HMGCL gene. HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hy-perammonemia, elevated liver function tests and metabolic acidosis.