PubMed · 13438447
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W KOLLATH. 1957-05-15. [Mesotrophic complex as unspecific chronic deficiency condition].. https://pubmed.ncbi.nlm.nih.gov/13438447/
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BACKGROUND AND PURPOSE: Liver transplantation could be a useful treatment for selected inborn errors of metabolism. This study evaluated the outcome and viral infections after liver transplantation in young children and infants with these diseases. METHODS: The outcome of liver transplantation and clinical characteristics of the following 4 patients were assessed: 1 infant with ornithine transcarbamylase deficiency (OTCD) who received liver transplant aged 3 years and 4 months; 1 infant with carbamyl phosphate synthetase I deficiency (CPSID) who received liver transplant at 14 months of age; and 2 infants with methylmalonic acidemia (MMA) who received liver transplant at 8 months and 11 months of age, respectively. All donors, except the 8-month-old infant with MMA, showed serologic evidence of previous cytomegalovirus (CMV) infection before transplantation. All 4 of these donors showed serologic evidence of previous infection of Epstein-Barr virus (EBV). None of the recipients had previous CMV infection. Both the infant with OTCD and the 8-month-old infant with MMA had previous EBV infection, while the other 2 patients did not. Preoperative hemodialysis was performed in both infants with MMA. Postoperative follow-up included metabolic stability, disability degree, and viral infections. RESULTS: None of the patients developed severe metabolic decompensation after transplantation and all increased protein intake postoperatively. Symptomatic viral infections, however, were present in all patients postoperatively, including CMV infection in the infant with OTCD and the 11-month-old infant with MMA, reactivation of EBV infection in the infant with OTCD and the 8-month-old infant with MMA, and primary EBV infection in the infant with CPSID. CONCLUSIONS: Liver transplantation was an effective treatment for all 4 of these patients with inborn errors of metabolism. The risk of symptomatic viral infections for these patients was high. This was likely associated with conditions including immunosuppression, young age, endemic nature of CMV and EBV infections, and lack of CMV prophylaxis.
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We report a Japanese boy who died at Day 28 of life because of severe carbamoyl phosphate synthetase I (CPS1) deficiency that was proven by enzyme assay. By analysis of cDNA and genomic DNA, he was shown to be a compound heterozygote with two point mutations of the CPS1 gene, 840G>C leading to an aberrant splicing and 1123C>T (predicting Q375X). The 840G>C was a mutation described in another Japanese family. Since his parents carried each mutation heterozygously, we performed prenatal diagnosis at 16 weeks of his mother's next gestation by multiplex PCR and melting curve analysis in a single capillary containing two-color fluorescent (LC-Red 640 and LC-Red 705) probes on LightCycler. We analyzed genomic DNA extracted from amniotic cells and found that the fetus was homozygous for the wild-type alleles. At term a healthy girl was born without hyperammonemia.