A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy

Unal Ö., ORHAN D., Ostergaard E., TOKATLI A., DURSUN A., ÖZTÜRK HİŞMİ B., ...Daha Fazla

JOURNAL OF CHILD NEUROLOGY, cilt.28, sa.11, ss.1505-1508, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 11
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1177/0883073812458710
  • Dergi Adı: JOURNAL OF CHILD NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1505-1508
  • Anahtar Kelimeler: nemaline rod, pyruvate carboxylase deficiency, mitochondrial disorders, myopathy, SKELETAL-MUSCLE, MYOPATHY
  • Kocaeli Üniversitesi Adresli: Hayır

Özet

Nemaline rods are the pathologic hallmark of nemaline myopathy, but they have also been described as a secondary phenomenon in a variety of other disorders. Nemaline rods have not been reported in pyruvate carboxylase deficiency before. Here we present a patient with pyruvate carboxylase deficiency and nemaline rods detected on muscle biopsy. The nemaline rods may be due to cellular energy shortage and altered energy metabolism in pyruvate carboxylase deficiency, similar to that in the previously reported patients. The mechanism of nemaline rod formation may be associated with the role of pyruvate carboxylase in cellular energy pathways.