We report 32 biotinidase-deficient patients detected by family studies in the index cases. The study group consisted of 10 mothers, 4 fathers and 18 siblings. There were 17 individuals (3 mothers, 4 fathers and 10 siblings) with profound biotinidase deficiency (BD) (< 10% of mean normal activity) and 15 (7 mothers and 8 siblings) with partial BD (10-30% of mean normal activity). In the profound BD group, only three siblings were symptomatic. Dermatitis, microcephaly, developmental delay and convulsions were observed. The patients with partial BD did not have any clinical symptoms except one sibling with borderline IQ score. None of the parents was symptomatic. Family investigation of patients with BD is very important for the detection of asymptomatic patients who are at risk of exhibiting symptoms at any age. Careful evaluation of these untreated individuals with BD is important to obtain additional information about the natural history of this disorder and may provide clues to phenotype-genotype relationships and treatment regimes.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s10545-005-0161-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Evaluating Reproductive Carrier Screening using Biotinidase Deficiency as a Model: Variants Identified, Variant Rates and Management.
Genet Med
December 2024
Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Emeritus, Departments of Medical Genetics and Pediatrics, Henry Ford Hospital, Detroit, MI, USA.
Article Synopsis
- The study reviewed biotinidase gene variants in a large group of women undergoing reproductive carrier screening to improve management of those with significant gene changes.
- About 6.1% of the 91,637 women tested had pathogenic or likely pathogenic variants, with a specific variant (D444H) being the most common in 92.3% of cases.
- The results showed variations in heterozygote rates among different racial and ethnic groups, highlighting the potential for reproductive carrier screening to lead to earlier diagnoses compared to traditional newborn screening methods.
Feasibility of clinical newborn metabolic screening in a high-volume maternity center in Nepal.
BMC Glob Public Health
February 2024
Mother and Infant Research Activities (MIRA), Kathmandu, Nepal.
Background: Strategic action plans around newborn health evaluation are needed, to address the high neonatal mortality rate in Nepal. Surveillance systems, like Newborn Metabolic Screening (NBS), could reveal unrecognized drivers of neonatal death. NBS is not routinely performed in Nepal.
View Article and Find Full Text PDFBiotinidase deficiency-masquerade of primary immunodeficiency disease in neonate.
BMJ Case Rep
December 2024
Department of Pediatrics, Graphic Era Institute of Medical Sciences, Dehradun, Uttarakhand, India
Biotinidase deficiency, a rare metabolic disorder characterised by abnormal biotin metabolism, affects the biotin-dependent carboxylase functions. Primarily characterised by neurological and skin disorder, it may present with myriad features. Early recognition is important for preventing long-term morbidities.
View Article and Find Full Text PDFCase report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom.
Front Genet
November 2024
Department of Endocrinology, Genetics and Metabolism, Jiangxi Provincial Children's Hospital, Nanchang, Jiangxi, China.
Introduction: Holocarboxylase synthetase deficiency (HLCSD) is a rare autosomal recessive genetic disorder caused by mutations in the holocarboxylase synthetase (HLCS) gene, which affects multiple systems. Common clinical manifestations include metabolic acidosis, rash, feeding difficulties, and growth retardation, with predominant involvement of the nervous system, skin, and hair. However, respiratory symptoms as the initial manifestation are relatively rare.
View Article and Find Full Text PDFComprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.
Turk J Pediatr
November 2024
Division of Child Nutrition and Metabolism, Department of Pediatrics, Van Research and Training Hospital, Van, Türkiye.
Article Synopsis
- Biotin is a water-soluble vitamin essential for carboxylation, and its deficiency (biotinidase deficiency, BD) can be classified as partial or profound depending on serum enzyme activity levels.
- A study involving 302 patients in eastern Türkiye assessed various factors such as age, family history, and genetic mutations related to BD, with the majority diagnosed through neonatal screening.
- The research identified 306 variants of the BTD gene, with the most common genetic mutations being c.410G>A (p.Arg137His) and c.1270G>C (p.Asp424His), and specific genotypes were linked to more severe deficiency symptoms.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!