Valproate‐Induced Biochemical Abnormalities in Pregnancy Corrected by Vitamins: A Case Report

Baggot, Paddy Jim; Kalamarides, Jeremy A.; Shoemaker, James D.

doi:10.1111/j.1528-1157.1999.tb00750.x

“…In an effort to further delineate the phenotypic features of FVS, the English literature was reviewed from 1978–2000 to identify patients with FVS. Cases that did not have adequate phenotypic description were excluded [Stanley and Chambers, 1982; Oakeshott and Hunt, 1989; Lindhout et al, 1992; Omtzigt et al, 1992; Hockey et al, 1996; Case 3] as well as cases that were exposed to VPA and other anticonvulsant treatment [Thomas and Buchanan, 1981; Gomez, 1981; DiLiberti et al, 1984 Cases 2,4,5; Chitayat et al, 1988 Cases 1,2; Ardinger et al, 1988 Cases 9–19; Serville et al, 1989 Christianson et al, 1994 Cases 1,2; Thisted and Ebbesen, 1993 Cases 12–17; Baggot et al, 1999].…”

Section: Discussionsupporting

confidence: 85%

Valproic acid embryopathy: Report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature

Kozma

2001

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Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. Neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.

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“…In an effort to further delineate the phenotypic features of FVS, the English literature was reviewed from 1978-2000 to identify patients with FVS. Cases that did not have adequate phenotypic description were excluded [Stanley and Chambers, 1982;Oakeshott and Hunt, 1989;Lindhout et al, 1992;Hockey et al, 1996; Case 3] as well as cases that were exposed to VPA and other anticonvulsant treatment [Thomas and Buchanan, 1981;Gomez, 1981;DiLiberti et al, 1984 Cases 2,4,5;Chitayat et al, 1988 Cases 1,2;Ardinger et al, 1988 Cases 9-19;Serville et al, 1989Christianson et al, 1994Thisted and Ebbesen, 1993 Cases 12-17;Baggot et al, 1999].…”

Section: Discussionmentioning

confidence: 99%

Valproic acid embryopathy: Report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature

Kozma

¹

2001

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Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. Neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.

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“…All eight B-vitamins were assessed by quantifying the breakdown products of the three amino acids which, among them, require all 8 vitamins at some point in their degradation. The toxic effects of pharmaceuticals and their mitigation by vitamin supplementation has been reported (12). Amniotic fluid samples from normal and Down syndrome pregnancies were analyzed and reported (13)(14)(15).…”

Section: Discussionmentioning

confidence: 99%

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Shoemaker

¹

2010

JoVE

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Every infant born in the US is now screened for up to 42 rare genetic disorders called "inborn errors of metabolism". The screening method is based on tandem mass spectrometry and quantifies acylcarnitines as a screen for organic acidemias and also measures amino acids. All states also perform enzymatic testing for carbohydrate disorders such as galactosemia. Because the results can be non-specific, follow-up testing of positive results is required using a more definitive method. The present report describes the "urease" method of sample preparation for inborn error screening. Crystalline urease enzyme is used to remove urea from body fluids which permits most other water-soluble metabolites to be dehydrated and derivatized for gas chromatography in a single procedure. Dehydration by evaporation in a nitrogen stream is facilitated by adding acetonitrile and methylene chloride. Then, trimethylsilylation takes place in the presence of a unique catalyst, triethylammonium trifluoroacetate. Automated injection and chromatography is followed by macro-driven custom quantification of 192 metabolites and semi-quantification of every major component using specialized libraries of mass spectra of TMS derivatized biological compounds. The analysis may be performed on the widely-used Chemstation platform using the macros and libraries available from the author. In our laboratory, over 16,000 patient samples have been analyzed using the method with a diagnostic yield of about 17%--that is, 17% of the samples results reveal findings that should be acted upon by the ordering physician. Included in these are over 180 confirmed inborn errors, of which about 38% could not have been diagnosed using previous methods. Video LinkThe video component of this article can be found at

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Valproate‐Induced Biochemical Abnormalities in Pregnancy Corrected by Vitamins: A Case Report

Cited by 8 publications

References 10 publications

Valproic acid embryopathy: Report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature

Valproic acid embryopathy: Report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature

Valproic acid embryopathy: Report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

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