Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.

UNLABELLED: Lysinuric protein intolerance (LPI; MIM 222700) is an inherited aminoaciduria with an autosomal recessive mode of inheritance. Biochemically, affected patients present with increased excretion of the cationic amino acids: lysine, arginine, and ornithine. We report the first case of LPI diagnosed in Malaysia presented with excessive excretion of homocitrulline. The patient was a 4-year-old male who presented with delayed milestones, recurrent diarrhea, and severe failure to thrive. He developed hyperammonemic coma following a forced protein-rich diet. Plasma amino acid analysis showed increased glutamine, alanine, and citrulline but decreased lysine, arginine and ornithine. Urine amino acids showed a marked excretion of lysine and ornithine together with a large peak of unknown metabolite which was subsequently identified as homocitrulline by tandem mass spectrometry. Molecular analysis confirmed a previously unreported homozygous mutation at exon 1 (235 G > A, p.Gly79Arg) in the SLC7A7 gene. This report demonstrates a novel mutation in the SLC7A7 gene in this rare inborn error of diamino acid metabolism. It also highlights the importance of early and efficient treatment of infections and dehydration in these patients. CONCLUSION: The diagnosis of LPI is usually not suspected by clinical findings alone, and specific laboratory investigations and molecular analysis are important to get a definitive diagnosis.

Human milk donation is an alternative to human milk bank.

BACKGROUND AND AIMS: Human milk bank is a source of human milk supply in many neonatal intensive care units. However, there are some hospitals without this facility because of financial or religious impediments, such as the Muslim community. METHODS: We introduced human milk donation as an alternative to human milk banking based on Islamic principles. The suitable donor is a healthy rooming-in mother whose expressed breastmilk is in excess of her baby's demand. The milk is used after 72 hours of freezing at -20°C. The donor must fulfill the criteria for selection of donors and be nonreactive to human immunodeficiency virus and syphilis. Once the recipient's family and the donor state their desire for the human milk donation, a meeting with both parties is made. Unpasteurized frozen-thawed donor's milk will be provided to the recipient after written consents are obtained from both parties. RESULTS: This study was carried out in the Duchess of Kent Hospital (Sandakan, Sabah, Malaysia) between January 2009 and December 2010. A total of 48 babies received donated breastmilk. Forty-two infants were from the special care nursery, and the remaining six were from the pediatric ward. Eighty-eight percent of the donors and 77% of the recipients were Muslims. Sixty percent of the infants who received donated human milk were premature. Two infants died because of the underlying nature of their disease. CONCLUSION: Human milk donation is an option for hospitals without a human milk bank or in the Muslim community.