Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis


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KILIÇ YILDIRIM G. , Durmus-Aydogdu S., Ceylaner S., Sass J. O.

TURKISH JOURNAL OF PEDIATRICS, cilt.59, sa.4, ss.471-474, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 59 Konu: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.24953/turkjped.2017.04.016
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.471-474

Özet

Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase, MAT or T2 deficiency) is a rare autosomal recessive disorder of isoleucine and ketone body metabolism due to acetyl-CoA acetyltransferase-1 (ACAT1) gene mutations. The disease is characterized by recurrent episodes of ketoasidosis which starts with vomiting and followed by dehydration and tachypnea. Here, we present a patient who was admitted to the hospital with severe acidosis and dehydration because of vomiting induced by protein rich nutrient and was diagnosed with MAT deficiency. 3-hydroxy-butyric acid, acetoacetic acid and 3-hydroxy-iso-valeric acid levels were significantly increased and tiglyglycine as trace amount in the urine organic acid analysis of the patient. Genetic analysis for ACAT-1 showed compound heterozygosity for the mutations c.949G > A (p.D317N) and c.951C > T (p.D317D), which both are known to cause exon 10 skipping and to be pathogenic missense mutations.