[Treatment of citrullinemia. Apropos of a case followed from birth. Importance of alpha-ketonic acids]

Arch Fr Pediatr. 1987 Dec;44(10):855-61.
[Article in French]

Abstract

From day 1 to day 3, the protein intake of this neonate was restricted to 1 g/kg/d. It included a) essential amino acids (i.e. histidine, lysine, threonine, tryptophan), b) arginine (1,000 mg/d), c) alphaketoisovaleric 500 mg/d, alpha-ketoisocaproic (500 mg/d), alphaketobetamethylvaleric (500 mg/d), alphaketogammamethylthiobutyric (200 mg/d), betaphenylpyruvic (400 mg/d) acids. 250 mg/kg/d of sodium benzoate were given. Caloric and water intakes were 120 cal/kg/d and 120 ml/kg/d respectively. Afterwards, this procedure was modified according to clinical and biological data including serum ammonia and amino acid levels. Alpha-ketonic acid absorption and metabolism were studied on day 29. Both were fast. The detection of alloisoleucine, which is not metabolized was the consequence of the use of alphaketobetamethylvaleric acid. Until the age of 21 months, clinical and metabolic status was satisfactory. At this time, repeated seizures without metabolic failure were accompanied by psychomotor damages.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Benzoates / therapeutic use
  • Citrulline / blood*
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Keto Acids / therapeutic use*
  • Male
  • Prognosis
  • Psychomotor Disorders / etiology

Substances

  • Benzoates
  • Keto Acids
  • Citrulline