Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate

J Inherit Metab Dis. 2008 Dec:31 Suppl 2:S343-7. doi: 10.1007/s10545-008-0914-x. Epub 2008 Oct 29.

Abstract

Citrin deficiency is a common congenital metabolic defect not only in East Asian populations but also in other populations around the world. It has been shown that although liver transplantation is ultimately required in many patients to prevent neurological decompensation associated with hyperammonaemia, arginine is effective in lowering ammonia in hyperammonaemic patients, and a high-protein low-carbohydrate diet may provide some benefit to infants in improving failure to thrive. In the present study, the clinical symptoms and laboratory findings are reported for a 13-year-old citrin-deficient girl in the early stage of adult-onset type II citrullinaemia (CTLN2), and the therapeutic effect of orally administered arginine and sodium pyruvate was investigated. The patient complained of anorexia, lethargy, fatigue and poor growth, and showed laboratory findings typical of CTLN2; elevated levels of plasma citrulline, threonine-to-serine ratio, and serum pancreatic secretory trypsin inhibitor. Oral administration of arginine and sodium pyruvate for over 3 years improved her clinical symptoms and has almost completely normalized her laboratory findings. It is suggested that the administration of arginine and sodium pyruvate with low-carbohydrate meals may be an effective therapy in patients with citrin deficiency in order either to prolong metabolic normalcy or to provide a safer and more affordable alternative to liver transplantation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Administration, Oral
  • Adolescent
  • Arginine / administration & dosage
  • Arginine / therapeutic use*
  • Biomarkers / blood
  • Citrullinemia / complications
  • Citrullinemia / diagnosis
  • Citrullinemia / drug therapy*
  • Citrullinemia / genetics
  • Citrullinemia / metabolism
  • Diet, Carbohydrate-Restricted
  • Drug Therapy, Combination
  • Female
  • Humans
  • Mitochondrial Membrane Transport Proteins / deficiency*
  • Mitochondrial Membrane Transport Proteins / genetics
  • Mutation
  • Pyruvic Acid / administration & dosage
  • Pyruvic Acid / therapeutic use*
  • Treatment Outcome

Substances

  • Biomarkers
  • Mitochondrial Membrane Transport Proteins
  • SLC25A13 protein, human
  • Pyruvic Acid
  • Arginine

Supplementary concepts

  • Adult-onset citrullinemia type 2