D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang Y, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. American Journal Of Medical Genetics Part A 2021, 188: 357-363. PMID: 34623748, PMCID: PMC8678290, DOI: 10.1002/ajmg.a.62520.Peer-Reviewed Original ResearchConceptsBifunctional protein deficiencyEarly mortalityClinical spectrumPersistent hypoglycemiaDBP deficiencyFat-soluble vitamin deficiencyImportant prognostic informationProtein deficiencyEnzyme deficiencyYears of lifePeroxisomal enzyme deficienciesResidual enzyme functionAbsent enzyme activityRapid whole-genome sequencingUnexplained hypoglycemiaEarly managementPrognostic informationVitamin deficiencyClinical severityNeonatal hypotoniaHigh burdenPeroxisomal dysfunctionPatient's fatherPsychomotor delayLong-chain fatty acids