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Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy.
J Clin Lipidol 2017 May - Jun; 11(3):757-762JC

Abstract

Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have "Pepto-Bismol like" blood when repeating a newborn screening. The initial plasma triglyceride level was 24,318 mg/dL. The laboratory tests revealed serum bicarbonate level of <5 mmol/L, sodium of 127 mmol/L, and severe anemia. There were no signs of acute distress. The point of care capillary blood testing, however, demonstrated normal serum pH (7.2), bicarbonate (25.4 mmol/L), and sodium (139 mmol/L). The patient had mild elevation of serum lactic acid and no ketonuria. A diagnosis of type I hyperlipoproteinemia was made. Oral feeding was stopped, and the infant received intravenous fluids for the next 7 days resulting in lowering of serum triglyceride levels to 1016 mg/dL. Oral feeding was initiated with an amino acid-rich formula to which medium chain triglycerides were slowly added, while maintaining the total fat content to <15% of total daily energy. Sequencing of the LPL gene revealed a homozygous c.644G>A, p.(Gly215Glu) mutation. Subsequent analysis of the parental samples revealed that only the father, but not the mother, was a heterozygous carrier of the same mutation. Analysis of 18 informative microsatellite markers on chromosome 8 revealed paternal segmental uniparental disomy with partial absence of the maternal chromosome 8p, confirmed by single-nucleotide polymorphism microarray. We conclude that besides pseudohyponatremia, extreme hypertriglyceridemia can rarely present as pseudoacidosis and uniparental disomy can be an underlying mechanism for autosomal recessive diseases such as LPL deficiency.

Authors+Show Affiliations

Division of Pediatric Endocrinology, Department of Pediatrics, Children's of Alabama, University of Alabama at Birmingham, Birmingham, AL, USA.Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, TX, USA. Electronic address: abhimanyu.garg@utsouthwestern.edu.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

28438574

Citation

Ashraf, Ambika P., et al. "Extreme Hypertriglyceridemia, Pseudohyponatremia, and Pseudoacidosis in a Neonate With Lipoprotein Lipase Deficiency Due to Segmental Uniparental Disomy." Journal of Clinical Lipidology, vol. 11, no. 3, 2017, pp. 757-762.
Ashraf AP, Hurst ACE, Garg A. Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy. J Clin Lipidol. 2017;11(3):757-762.
Ashraf, A. P., Hurst, A. C. E., & Garg, A. (2017). Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy. Journal of Clinical Lipidology, 11(3), pp. 757-762. doi:10.1016/j.jacl.2017.03.015.
Ashraf AP, Hurst ACE, Garg A. Extreme Hypertriglyceridemia, Pseudohyponatremia, and Pseudoacidosis in a Neonate With Lipoprotein Lipase Deficiency Due to Segmental Uniparental Disomy. J Clin Lipidol. 2017;11(3):757-762. PubMed PMID: 28438574.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy. AU - Ashraf,Ambika P, AU - Hurst,Anna C E, AU - Garg,Abhimanyu, Y1 - 2017/04/03/ PY - 2017/03/06/received PY - 2017/03/23/revised PY - 2017/03/26/accepted PY - 2017/4/26/pubmed PY - 2017/12/27/medline PY - 2017/4/26/entrez KW - Lipoprotein lipase deficiency KW - Pseudoacidosis KW - Severe hypertriglyceridemia KW - Type I hyperlipoproteinemia KW - Uniparental disomy SP - 757 EP - 762 JF - Journal of clinical lipidology JO - J Clin Lipidol VL - 11 IS - 3 N2 - Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have "Pepto-Bismol like" blood when repeating a newborn screening. The initial plasma triglyceride level was 24,318 mg/dL. The laboratory tests revealed serum bicarbonate level of <5 mmol/L, sodium of 127 mmol/L, and severe anemia. There were no signs of acute distress. The point of care capillary blood testing, however, demonstrated normal serum pH (7.2), bicarbonate (25.4 mmol/L), and sodium (139 mmol/L). The patient had mild elevation of serum lactic acid and no ketonuria. A diagnosis of type I hyperlipoproteinemia was made. Oral feeding was stopped, and the infant received intravenous fluids for the next 7 days resulting in lowering of serum triglyceride levels to 1016 mg/dL. Oral feeding was initiated with an amino acid-rich formula to which medium chain triglycerides were slowly added, while maintaining the total fat content to <15% of total daily energy. Sequencing of the LPL gene revealed a homozygous c.644G>A, p.(Gly215Glu) mutation. Subsequent analysis of the parental samples revealed that only the father, but not the mother, was a heterozygous carrier of the same mutation. Analysis of 18 informative microsatellite markers on chromosome 8 revealed paternal segmental uniparental disomy with partial absence of the maternal chromosome 8p, confirmed by single-nucleotide polymorphism microarray. We conclude that besides pseudohyponatremia, extreme hypertriglyceridemia can rarely present as pseudoacidosis and uniparental disomy can be an underlying mechanism for autosomal recessive diseases such as LPL deficiency. SN - 1933-2874 UR - https://www.unboundmedicine.com/medline/citation/28438574/Extreme_hypertriglyceridemia,_pseudohyponatremia,_and_pseudoacidosis_in_a_neonate_with_lipoprotein_lipase_deficiency_due_to_segmental_uniparental_disomy L2 - https://linkinghub.elsevier.com/retrieve/pii/S1933-2874(17)30085-5 DB - PRIME DP - Unbound Medicine ER -