Timing of Strict Diet in Relation to Fetal Damage in Maternal Phenylketonuria

Drogari, Euridiki; Beasley, M. G.; Smith, I.; Lloyd, June K.

doi:10.1016/s0140-6736(87)91418-8

Cited by 96 publications

(30 citation statements)

References 18 publications

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“…Our data also do not support a direct relationship between protein turnover changes and the process of neurologic damage in that protein turnover appeared unrelated to the plasma phenylalanine concentration (Fig. l), despite the close relationship between phenylalanine concentration and both prenatal and postnatal neurologic damage in PKU (5,6,40). The possibility of an alternative explanation to amino acid imbalance for congenital abnormalities in maternal PKU is further indicated by the dissimilarity between the pathologic findings in children of PKU mothers compared with those in pregnancies complicated by severe protein malnutrition (4 1,42).…”

Section: Discussioncontrasting

confidence: 59%

“…Such a mechanism has been used in particular to explain the tissue damage that occurs in maternal PKU. Untreated maternal PKU carries a high risk to the fetus of mental retardation, microcephaly, intrauterine growth retardation, congenital heart disease, and other malformations (5,6). These abnormalities appear related to the control of blood phenylalanine levels throughout pregnancy, but especially at conception (5).…”

mentioning

confidence: 99%

“…Untreated maternal PKU carries a high risk to the fetus of mental retardation, microcephaly, intrauterine growth retardation, congenital heart disease, and other malformations (5,6). These abnormalities appear related to the control of blood phenylalanine levels throughout pregnancy, but especially at conception (5). Animal models of maternal PKU have shown that maternal hyperphenylalaninemia suppresses active transport of amino acids, especially branched-chain amino acids and methionine, across the placenta (2), resulting in amino acid imbalances in fetal plasma and tissues (2,7).…”

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confidence: 99%

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Protein Metabolism in Phenylketonuria and Lesch-Nyhan Syndrome

Thompson¹,

Pacy²,

Watts

et al. 1990

Pediatr Res

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ABSTRACT. Animal and in vitro studies have implicated decreased protein synthesis in the pathogenesis of tissue damage in phenylketonuria (PKU) and of growth failure in Lesch-Nyhan syndrome. Protein turnover was measured in vivo in ten young adult subjects with classical PKU, two subjects with hyperphenylalaninemia, and three children with Lesch-Nyhan syndrome using techniques based on continuous infusions of ['3C]leucine and, in Lesch-Nyhan subjects, [2Hs]phenylalanine. The PKU subjects had various degrees of dietary phenylalanine restriction and plasma phenylalanine levels at the time of study ranged from 450-1540 pmol/L (mean 1106). Plasma phenylalanine in the two hyperphenylalaninemic subjects was 533 and 402 pmol/L. Rates of protein synthesis in all PKU subjects (mean 3.71 g/kg/24 h, range 2.68-5.10, ['3C]leucine as tracer) were in a range similar to or above control values (mean 2.97, range 2.78-3.22, n = 6), as were rates of protein catabolism (PKU mean 4.23 g/kg/24 h, range 3.15-5.45; controls 3.64, 3.50-3.91). Protein turnover values in hyperphenylalaninemia were also similar to those in controls. With ['3C]leucine as tracer, both mean protein synthesis and catabolism values in Lesch-Nyhan subjects (mean 4.80 and 5.64 g/kg/24 h, respectively) were higher than values in control children matched for protein intake (synthesis 4.32 + 0.74 (SD) and catabolism 4.85 + 0.57 (g/kg/24 h, n = 5). Similar results were obtained in LeschNyhan subjects using [2Hs]phenylalanine as tracer. These results suggest that protein turnover is not decreased in either PKU or Lesch-Nyhan syndrome. This conclusion is inconsistent with the hypothesis that tissue damage in PKU results from impaired protein synthesis. The findings also indicate that growth failure in Lesch-Nyhan syndrome is unlikely to be due to decreased protein synthesis resulting from impaired energy metabolism. (Pediatr Res 28: 240-246,1990) Abbreviations PKU, phenylketonuria HPRT, hypoxanthine-guanine phosphoribosyltransferase KIC, a-ketoisocaproic acid BMI, body mass index GTP, guanosine 5'-triphosphate APE, atoms percent excessThe cause of tissue damage in PKU is still a matter of debate.A number of studies have demonstrated reduced protein synthe-

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Section: Discussioncontrasting

confidence: 59%

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confidence: 99%

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confidence: 99%

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Protein Metabolism in Phenylketonuria and Lesch-Nyhan Syndrome

Thompson¹,

Pacy²,

Watts

et al. 1990

Pediatr Res

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“…The maternal phenylketonuria syndrome is an embryo-fetopathy observed in the offspring of mothers with increased blood phenylalanine [Superti-Furga et al, 19911. Its main manifestations are intrauterine growth retardation, microcephaly, congenital heart defects, skeletal malformations, and mental retardation [Dent, 1956;Denniston, 1963;Marbry et al, 1963Marbry et al, , 1966Fisch et al, 1966;Richards, 1964;Huntley et al, 1969;Yu and O'Halloran, 1970;Lenke and Levy, 1980;Levy and Waisbren, 1983;Drogari et al, 1987;Hanley et al, 1987;l Here we report on the first bedouin mother with phenylketonuria. She was ascertained only after delivery of her third baby with maternal PKU syndrome.…”

Section: Introductionmentioning

confidence: 94%

Late diagnosis of phenylketonuria in a bedouin mother

et al. 1992

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“…4,5 Dietary treatment will protect the fetus but only under the proper circumstances. Treatment begun prior to conception and continuing throughout pregnancy appears to offer maximum protection, whereas treatment even in the first trimester may not prevent some of the adverse effects of maternal PKU.6,7 Since many young women with PKU discontinued the special diet during childhood,8 the strategy for preventing birth defects from maternal PKU must include careful family planning so that diet can be initiated before conception.…”

Section: Introductionmentioning

confidence: 99%

Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies.

Waisbren

Shiloh²,

James³

et al. 1991

Am J Public Health

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BACKGROUND. Women with phenylketonuria (PKU) not treated prior to conception can have a pregnancy that results in serious fetal damage. In this report, factors associated with preventing unplanned (and hence late treated) pregnancies are described. METHODS. Subjects included 60 phenylketonuric women and two comparison groups composed of female acquaintances and diabetic women. All were interviewed and administered tests of intelligence, general well-being, knowledge, and personality. RESULTS. Thirty-five percent of the sexually active women with PKU used contraception only sporadically. The variables that best predicted reported frequency of birth control use were the extent to which women felt social support to use contraception (r = .64) along with positive attitudes about birth control (r = .66) and knowledge of family planning (r = .43). For the comparison groups, a different pattern of variables predicted contraceptive use, with locus of control figuring most prominently for the diabetics (r = .39) and social support for birth control being most important for the acquaintances (r = .46). CONCLUSIONS. As more girls with PKU enter childbearing ages, there will be an increased need for specific programs that address psychosocial factors in maternal PKU.

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Timing of Strict Diet in Relation to Fetal Damage in Maternal Phenylketonuria

Cited by 96 publications

References 18 publications

Protein Metabolism in Phenylketonuria and Lesch-Nyhan Syndrome

Protein Metabolism in Phenylketonuria and Lesch-Nyhan Syndrome

Late diagnosis of phenylketonuria in a bedouin mother

Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies.

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