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Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report.
Mol Genet Metab Rep
December 2024
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
D-bifunctional protein (DBP) deficiency, a fatal peroxisomal enzyme disorder, typically manifests with life-threatening symptoms in the first two years of childhood. We present the case of an infant with elevated lysophosphatidylcholine C26:0 (C26:0-LPC) levels identified during X-linked adrenoleukodystrophy (ALD) screening, leading to a diagnosis of DBP deficiency due to a homozygous c.1041T>A, p.
View Article and Find Full Text PDFD-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings: Case Report and Review of the Literature.
Int J Mol Sci
April 2024
Faculty of Medicine, Lucian Blaga University, 550025 Sibiu, Romania.
D-bifunctional protein deficiency (D-BPD) is a rare, autosomal recessive peroxisomal disorder that affects the breakdown of long-chain fatty acids. Patients with D-BPD typically present during the neonatal period with hypotonia, seizures, and facial dysmorphism, followed by severe developmental delay and early mortality. While some patients have survived past two years of age, the detectable enzyme activity in these rare cases was likely a contributing factor.
View Article and Find Full Text PDFAdrenal Insufficiency in Peroxisomal Disorders: A Single Institution Case Series.
Horm Res Paediatr
August 2023
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Introduction: There are two major categories of peroxisomal disorders (PDs): peroxisomal biogenesis disorders (PBDs) due to defects in peroxisomal (PEX) genes and deficiency of other peroxisomal enzymes (such as D-bifunctional enzyme deficiency due to HSD17B4). PDs are characterized by abnormal elevations of very-long-chain fatty acids (VLCFA). We aimed to evaluate the clinical phenotype of adrenal insufficiency in patients with PD and to assess any genotype-phenotype correlations with adrenal insufficiency.
View Article and Find Full Text PDFD-bifunctional protein deficiency caused by gene mutation in a neonate.
Zhongguo Dang Dai Er Ke Za Zhi
October 2021
Department of Neonatology, Xiangya Hospital, Central South University, Changsha 410008, China (Yue S-J, Email:
A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram.
View Article and Find Full Text PDFNovel Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review.
Child Neurol Open
October 2021
Hamamatsu University School of Medicine, Hamamatsu, Japan.
Article Synopsis
- - D-bifunctional protein (DBP) deficiency is a peroxisomal disorder that can lead to various symptoms, including progressive leukodystrophy and hearing loss, particularly in children.
- - A case study of a 6-year-old boy showed developmental regression and brain imaging revealed leukodystrophy, but plasma levels of very long chain fatty acids (VLCFAs) were normal.
- - Genetic testing identified two variants in the DBP gene, with one being likely pathogenic; despite normal VLCFAs, the accumulation of specific fatty acids confirmed a diagnosis of type III DBP deficiency.
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