Pyruvate dehydrogenase-E1 alpha deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy

Kara B., Genç H., Uyur-Yalçın E., Sakarya-Güneş A., Topçu U., Mülayim S., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.27, sa.1, ss.94-97, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 1
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1016/j.nmd.2016.11.001
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.94-97
  • Anahtar Kelimeler: Pyruvate dehydrogenase-E1 alpha deficiency, PDHA1gene, Acute weakness, Guillain-Barre syndrome-like disease, Proximal muscle weakness, COMPLEX DEFICIENCY, NEUROPATHY, SPECTRUM
  • Kocaeli Üniversitesi Adresli: Evet

Özet

The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (El, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare. Here, we present an 8-year-old boy complaining of acute proximal muscle weakness of upper and lower extremities with normal mental status. He had a history of Guillain-Barre-like syndrome at the age of 2 years. Electrophysiologic studies showed sensorial polyneuropathy findings in the first attack and sensorimotor axonal polyneuropathy findings in the last attack. The genetic analysis revealed a previously reported hemizygote novel mutation of the PDHA1 gene (p.A353T/c.1057G > A), which encodes the E1 alpha subunit of PDHC. Thiamine was ordered (15 mg/kg/day), dietary carbohydrates were restricted and clinical findings improved in a few weeks. This rare phenotype of PDHC deficiency is discussed.