RESUMO
Propionic acidemia is often manifested during the neonatal period with vomiting, failure to thrive, lethargy, and hyperammonemic coma when catabolism is prolonged. Mild lactic acidosis frequently accompanies metabolic decompensation. We present two patients with propionic acidemia whose initial manifestation was complicated by severe lactic acidosis caused by thiamine deficiency, which resulted from an inadequate supply of, and an increased need for, thiamine during metabolic stress. To prevent acute thiamine deficiency, we propose early vitamin supplementation during treatment of any severe metabolic decompensation accompanied by insufficient food intake.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/complicações , Erros Inatos do Metabolismo dos Aminoácidos/terapia , Propionatos/sangue , Deficiência de Tiamina/etiologia , Doença Aguda , Evolução Fatal , Feminino , Humanos , Lactente , Recém-Nascido , MasculinoRESUMO
OBJECTIVES: To determine whether a circadian variation of urinary excretion of calcium and phosphorus exists in preterm infants. STUDY DESIGN: We studied 70 newborn infants (median birth weight 1920 gm, range 660 to 3550 gm; median gestational age 34 weeks, range 25 to 42 weeks) at a median postmenstrual age of 36 weeks (range 32 to 42 weeks). Within a period of 24 hours, four urine specimens were collected during 6-hour periods. The concentrations of calcium, phosphorus, sodium, potassium, and creatinine were determined and creatinine quotients were calculated for each specimen. RESULTS: No clinically relevant circadian variation in urinary excretion for any of these minerals was found. CONCLUSION: If spot urine specimens are used to monitor calcium and phosphorus balance in preterm infants, the time of the day these are collected is not important.