Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency

Thuy, Le Phuc; Belmont, John W.; Nyhan, William L.

doi:10.1002/(sici)1097-0223(199902)19:2<108::aid-pd476>3.0.co;2-e

Cited by 31 publications

(18 citation statements)

References 20 publications

(21 reference statements)

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“…Prenatal diagnosis by molecular testing for the L216R mutation was declined. Due to the risk of recurrent HCLS deficiency, and based on the limited available information on biotin use for at-risk pregnancies (Suormala et al 1998;Thuy et al 1999), it was recommended that the mother take 10 mg/day of biotin, although she only took it during the last week prior to delivery. A male infant was born at 40 weeks gestation by normal vaginal delivery.…”

Section: Casementioning

confidence: 99%

Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation

et al. 2013

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Section: Casementioning

confidence: 99%

Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation

et al. 2013

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“…Unfortunately, both died before HLCS diagnosis was made and biotin therapy started. It is probable that the severity of their clinical manifestations and early death were due to a lack of appropriate therapy (Thuy et al, 1999a).…”

Section: Discussionmentioning

confidence: 99%

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

et al. 2005

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Objectives We report on the first prenatal molecular diagnosis of holocarboxylase synthetase (HLCS) deficiency in the fourth pregnancy of an at-risk family. This disorder is a rare autosomal recessive inborn error of metabolism, leading to a multiple carboxylase defect (MCD). HLCSD diagnosis was performed postmortem in the proband on DNA from autoptic biological material. Molecular analysis of the proband's entire HLCS gene by direct sequencing identified the R508W amino acid change, at the homozygous status.Methods Fetal DNA was isolated from chorionic villus sampling at 11 weeks of gestation. Direct sequencing of exon 6 of the fetal HLCS gene was performed. ResultsThe R508W mutation was identified in the fetal DNA at the homozygous level. The genetic lesion was confirmed on abortive tissue.Conclusion Molecular diagnosis has several advantages over enzymatic activity assay of carboxylases in chorionic villi or amniocytes. It can be performed earlier, is faster, and the response time is shorter.

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“…These mutations cause a substantial decrease in HLCS activity and metabolic abnormalities (National 2008;Suzuki et al 2005). Unless diagnosed and treated early, HLCS deficiency appears to be uniformly fatal (Thuy et al 1999).…”

Section: Biotinylation Of Histonesmentioning

confidence: 99%

Nutrition, Histone Epigenetic Marks, and Disease

Zempleni

Liu

Xue

2013

Environmental Epigenomics in Health and Disease

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The dietary intake of essential nutrients and bioactive food compounds is a process that occurs on a daily basis for the entire life span. Therefore, your diet has a great potential to cause changes in the epigenome. Known histone modifications include acetylation, methylation, biotinylation, poly(ADP-ribosylation), ubiquitination, and sumoylation. Some of these modifications depend directly on dietary nutrients. For other modifications, bioactive dietary compounds may alter the activities of enzymes that establish or remove histone marks, thereby altering the epigenome. This chapter provides an overview of diet-dependent epigenomic marks in histones and their links with human health.

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Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency

Cited by 31 publications

References 20 publications

Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation

Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency

Nutrition, Histone Epigenetic Marks, and Disease

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