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Biochemical data as important clues for diagnosis of SUCLA2 defects

A novel SUCLA2 mutation in a Portuguese patient

A novel missense mutation in SUCLA2 associated with mild methylmalonic aciduria

Livro de abstracts da 16ª reunião da SPGH 2012 ; Introduction Succinyl CoA synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and ATP or GTP from succinyl-CoA and ADP in the tricarboxylic acid cycle (TCA). This enzyme is made up of two subunits, α and β, encoded by SUCLG1 and SUCLA2, respectively. The clinical features of patients with mutations in SUCLA2 include ea...

Creatine deficiency syndromes: biochemical and molecular aspects

Introduction: Creatine deficiency syndromes (CDS) represent a group of inborn errors of creatine biosynthesis: L-arginine-glycine amidinotransferase - AGAT and guanidinoacetate methyltransferase - GAMT deficiencies and transport (creatine transporter - SLC6A8 deficiency). Patients with CDS may present with mental retardation (MR), expressive speech and language delay, and epilepsy. Patients with GAMT deficiency...