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Biomedical subjects

François Feillet

Publications and source records attributed to François Feillet.

5 recordsLinked to original sources
PubMed2006

[Phenylketonuria].

Phenylketonuria is a hereditary metabolic disease, characterized by deficiency of phenylalanine hydroxylase, an enzyme necessary for the transformation of phenylalanine into tyrosine. Untreated, phenylketonuria leads to mental retardation, sometimes profound, as well as hypopigmentation. Dietary phenylalanine restriction allows patients to lead almost normal lives. Phenylalanine is toxic to fetal development and severe disorders occur in the children of women whose phenylketonuria is untreated during pregnancy. These women must be informed that they must plan pregnancy and begin dietary restrictions in the preconceptional period. France has set up routine neonatal screening in view of the incidence of this disease (1/17000 in France) and the existence of effective treatment. Since 1970, approximately 1600 infants with phenylketonuria have thus been diagnosed and treated. Strict metabolic control is necessary during the first 10 years of life, after which the diet can be progressively enlarged. Dietary restriction must resume before any pregnancy. Advances in treatment: a study published in 2002 showed that some patients deficient in phenylalanine hydroxylase are sensitive to pharmacological doses of tetrahydrobiopterin (BH4), a cofactor of this 'enzyme essential to the transformation of phenylalanine into tyrosine. Some patients treated by this cofactor have normal levels of phenylalanine intake. While only a few patients have so far received this alternative treatment, intermediate and long-term experiments are currently being evaluated.

Diagnosis, Differential↗
PubMed2004

Maternal phenylketonuria: the French survey.

UNLABELLED: We report the French experience regarding pregnancies in maternal phenylketonuria (PKU). In 2001, a questionnaire was sent to each referring PKU specialist in the 20 centres of each region of France, collecting reports on 135 pregnancies in 79 women born between 1958 and 1980. The majority of the 135 pregnancies occurred after 1990. A total of 42 women were informed of the risks of untreated pregnancy, while 26 were not informed (no data for 11). A strict diet was achieved in 83% of informed and in 16% of uninformed mothers prior to conception. Healthy offspring were observed in 43% of the 135 pregnancies, spontaneous abortions in 10.4%, elective abortions in 4.4%, therapeutic abortions in 12.6%, and embryopathies (EP) in 21.5%. In 8.1% of cases, the outcomes (in earliest pregnancies) are unknown. The proportion of healthy children increased over time and reached 80% of the pregnancies of informed females. There were seven heart defects, all in cases of EP, but although microcephaly and intrauterine growth retardation (IUGR) were almost constant in EP, we also found nine healthy children with IUGR. A continuum between EP and healthy children is suggested. The anthropometric data of the mothers showed that their body mass index (BMI) distribution was shifted to the left compared to women of the general population. This lower BMI and poor weight gain during pregnancy could contribute to the IUGR observed in normal babies whose mothers received a phenylalanine-restricted diet during pregnancy. CONCLUSION: the information and the preconception diet are effective for avoiding embryopathies in maternal phenylketonuria. Nutritional parameters can influence fetal growth and the nutritional state must be closely monitored throughout pregnancies of women with phenylketonuria.

Adolescent↗
PubMed2004

High prevalence of hyperhomocysteinemia related to folate deficiency and the 677C-->T mutation of the gene encoding methylenetetrahydrofolate reductase in coastal West Africa.

BACKGROUND: Moderate hyperhomocysteinemia is a risk for neural tube defect and neurodegenerative and vascular diseases and has nutritional, metabolic, and genetic determinants. Its prevalence in sub-Saharan Africa remains unknown. OBJECTIVE: Our goal was to evaluate the prevalence of hyperhomocysteinemia and the influence of nutritional, metabolic, and genetic determinants in savanna and coastal regions of Togo and Benin. DESIGN: Volunteers were recruited from coastal (C groups; n = 208) and savanna (S group; n = 68) regions. Vitamin B-12, folate, total homocysteine (tHcy), cystatin C (a marker of glomerular filtration), and inflammatory and nutritional protein markers were measured in plasma, and the methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A--> C polymorphisms and the methionine synthase 2756A-->G polymorphism were examined in genomic DNA. RESULTS: Moderate hyperhomocysteinemia (tHcy > 15 micromol/L) was recorded in 62.3% and 29.4% of the subjects from the coast and savanna, respectively (P < 0.0001). A histogram distribution of tHcy in the coastal groups showed a distinct group, C2 (15% of the total group), with tHcy > 28 micro mol/L. Folate < 6.75 nmol/L (lower quartile) and MTHFRCT/TT genotype were the 2 main risk factors for moderate hyperhomocysteinemia in the whole population [odds ratios: 5.3 (95% CI: 2.5, 11.2; P < 0.0001) and 4.9 (1.6, 14.8; P = 0.0048), respectively] and in the C2 group [odds ratios: 15.9 (4.5, 56.8; P < 0.0001) and 9.0 (2.3, -35.2; P = 0.0017), respectively]. Cystatin C was another potent risk factor in the C2 group. CONCLUSION: A high prevalence of hyperhomocysteinemia in coastal West Africa, related to folate concentrations and the MTHFR 677 T allele, suggests the need to evaluate the influence of hyperhomocysteinemia on disease in this area.

Adult↗