Prenatal diagnosis of pyruvate carboxylase deficiency

Robinson, Brian H.; Toone, Jennifer R.; Benedict, R. Petrova; Dimmick, James E.; Oei, J.; Applegartht, D. A.

doi:10.1002/pd.1970050112

Cited by 17 publications

(11 citation statements)

References 7 publications

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“…Table 1 compares the clinical features presented by the two male siblings described in this study (Cases 1 and 2) relative to normal and Type A PC deficient subjects. The biochemical and molecular data for these two siblings has previously been reported [Robinson et al, 1984;Robinson et al, 1985]. Case 2 is an affected fetus and the male sibling of Case 1.…”

Section: Rna Extraction and Cdna Preparationmentioning

confidence: 81%

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Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

2002

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This paper describes the molecular characterization of two male siblings displaying the complex (Type B) form of pyruvate carboxylase (PC) deficiency in which severe neonatal lactic acidosis and redox abnormalities results in death within the first few weeks of life. The two male siblings were found to be compound heterozygous for a TAGG deletion at the exon15/intron15 splice site (IVS15+2-5delTAGG) and a dinucleotide deletion in exon 16 (2491-2492delGT) of the PC gene. We also demonstrate through RT-PCR and sequencing of aberrant transcripts that the IVS15+2-5delTAGG results in the retention of intron 15 during pre-mRNA splicing. In addition, both deletions are predicted to result in a frameshift to generate a premature termination codon such that the encoded mRNA could be subject to nonsense mediated decay.

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Section: Rna Extraction and Cdna Preparationmentioning

confidence: 81%

“…Diagnosis was based on a PC enzyme assay [Robinson et al, 1985] modified from the method of Utter and Keech [Utter and Keech, 1963] [Robinson et al, 1987;Robinson et al, 1983;Robinson et al, 1984]. The results are presented in Table 1.…”

Section: Materials and Methods Patient Samplesmentioning

confidence: 99%

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

2002

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“…However, we have no evidence to support this hypothesis. In fact, Robinson et al (17) have shown evidence for brain involvement during fetal development in a PC-deficient patient.…”

Section: Discussionmentioning

confidence: 99%

“…hyperammonemia (12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22). Essentially all these patients died within the first 4 mo of life.…”

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confidence: 99%

Pyruvate Carboxylase Deficiency: A Benign Variant with Normal Development

1991

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ABSTRACT. The devastating nature of a pyruvate carboxylase deficiency is underscored by the uniformly fatal outcome of the neonatal (French) type and the severely disabling and ultimately fatal outcome of the infantile (North American) type. We report a 7-y-old girl with metabolic and biochemical features of the North American phenotype. Remarkably, the clinical course has been benign with preservations of motor and mental abilities. The residual enzyme activity in cultured skin fibroblast homogenates was 1.8% and cross-reacting material was present in normal abundance and electrophoretic mobility. She has had several episodes of metabolic acidosis with elevated lactate, pyruvate, alanine, 0-hydroxybutyrate, acetoacetate, lysine, and proline values, and undetectably low aspartate concentrations. These crises have been managed by rehydration and bicarbonate therapy. We are unable to provide a satisfactory explanation for the uniquely benign clinical course that has been experienced by this patient. (Pediatr Res 30: 1-4, 1991)

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“…Also, a benign variant has been reported in a seven-year-old girl whose motor and mental abilities remained largely intact (Van Coster et al, 1991). Marsac et al (1982) reported the successful prenatal diagnosis of PC deficiency using a radiometric assay in cultured amniocytes, as have others (Robinson et al, 1985).…”

Section: Introductionmentioning

confidence: 98%

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples

Coster

Janssens

Misson³

et al. 1998

Prenat. Diagn.

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Pyruvate carboxylase (PC) deficiency is a rare metabolic disorder in infants and children, most frequently with fatal outcome. Its prenatal diagnosis by radiometric assay in cultured amniocytes has previously been reported. We present and discuss the prenatal diagnosis of PC deficiency by direct measurement of PC activity in chorionic villi, in two subsequent pregnancies in a family who previously lost a child affected by PC deficiency. In the next pregnancy PC was unmeasurably low in chorionic villi whereas in control samples its activity was between 0·8 and 3·3 nmol min−1 mg protein−1. Following elective termination of the pregnancy PC was shown to be totally inactive in post‐mortem fetal liver. In the most recent pregnancy of the proband's mother PC was normally active in the chorionic villi. The product of this pregnancy was a normal boy. Copyright © 1998 John Wiley & Sons, Ltd.

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Prenatal diagnosis of pyruvate carboxylase deficiency

Cited by 17 publications

References 7 publications

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings

Pyruvate Carboxylase Deficiency: A Benign Variant with Normal Development

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples

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