ArticleJournal of inherited metabolic disease2005
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases.
Article in Journal of inherited metabolic disease, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Guideline
- Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.Biomedicines · 2025Article
- Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.Molecular genetics and genomics : MGG · 2023Article
- A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.Journal of pediatric genetics · 2023Review
- High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.International journal of environmental research and public health · 2022Article
- Isotretinoin and neuropsychiatric side effects: Continued vigilance is needed.Journal of affective disorders reports · 2021Article
- Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.Frontiers in pediatrics · 2021Article
- Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.Neurology. Genetics · 2020Article
- Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.Journal of personalized medicine · 2020Article
- Biotinidase Deficiency: Prevalence, Impact And Management Strategies.Pediatric health, medicine and therapeutics · 2020Review
- Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.Frontiers in neurology · 2020Article
- A Case of Biotinidase Deficiency in an Adult with Respiratory Failure in the Intensive Care Unit.Balkan medical journal · 2016Article
- Clinical utility gene card for: Biotinidase deficiency-update 2015.European journal of human genetics : EJHG · 2016Review
- Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.European journal of pediatrics · 2015Article
- The Biotinidase Gene Variants Registry: A Paradigm Public Database.G3 (Bethesda, Md.) · 2013Article
- Retinoic acid and affective disorders: the evidence for an association.The Journal of clinical psychiatry · 2012Review
- Profound biotinidase deficiency: a rare disease among native Swedes.Journal of inherited metabolic disease · 2010Article
- High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.Journal of inherited metabolic disease · 2009Article
- Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.Journal of inherited metabolic disease · 2007Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.