Maternal phenylketonuria

A rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


合計: 13

                       


（表示件数）
PMID (PMCID)
27898272
 FEMALE Adult
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride.
Yildiz Y, Dursun A, Tokatli A, Coskun T, Sivri S.
Gynecol Endocrinol. 2017;33(1):19-20.
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome.
19898791
 MIXED_SAMPLE Infant, Newborn
A case of maternal PKU syndrome despite intensive patient counseling.
Unger S, Weigel JF, Stepan H, Baerwald CG.
Wien Med Wochenschr. 2009;159(19-20):507-10.
The patient delivered a newborn with classic maternal PKU syndrome (microcephaly, brachygnathia, congenital heart defect and psychomotoric retardation), which is nowadays rarely seen under preconceptional Phe-restricted diet.
19557660
 FEMALE Adult
Undiagnosed maternal phenylketonuria: own clinical experience and literature review.
Bouchlariotou S, Tsikouras P, Maroulis G.
J Matern Fetal Neonatal Med. 2009;22(10):943-8.
The maternal PKU (MPKU) syndrome is caused by high blood Phe concentrations during pregnancy and presents with serious foetal anomalies, especially microcephaly, congenital heart disease and mental retardation.
19485248
 FEMALE Infant, Newborn
[The maternal phenylketonuria syndrom--still current problem].
Didycz B, Domagala L, Pietrzyk JJ.
Przegl Lek. 2009;66(1-2):4-10.
Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.
19485248
 FEMALE Infant, Newborn
[The maternal phenylketonuria syndrom--still current problem].
Didycz B, Domagala L, Pietrzyk JJ.
Przegl Lek. 2009;66(1-2):4-10.
Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.
19485248
 FEMALE Infant, Newborn
[The maternal phenylketonuria syndrom--still current problem].
Didycz B, Domagala L, Pietrzyk JJ.
Przegl Lek. 2009;66(1-2):4-10.
Among the children with maternal PKU syndrome: microcephaly was diagnosed in 17 cases, congenital heart defect and microcephaly in 6 children, and microcephaly and the anal atresia in 1 child.
15811181
(1079877)
 MIXED_SAMPLE Child
An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria.
Knerr I, Zschocke J, Schellmoser S, Topf HG, Weigel C, Dotsch J, Rascher W.
BMC Pediatr. 2005;5(1):5.
The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation.
15320931
 MIXED_SAMPLE Child
Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria.
Shaw-Smith C, Hogg SL, Reading R, Calvin J, Trump D.
Child Care Health Dev. 2004;30(5):551-5.
Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria.
10858866
 MIXED_SAMPLE Infant, Newborn
[Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria].
Saliba Z, Bah G, Martin D, Abadie V, Azar Z, Fraisse A, Sidi D, Kachaner J, Bonnet D.
Arch Mal Coeur Vaiss. 2000;93(5):649-52.
Here, we report two families in whom we observed recurrent left heart malformations associated with microcephaly masquerading as a mendelian condition and revealing a maternal phenylketonuria.
10858866
 MIXED_SAMPLE Infant, Newborn
[Pseudo-inherited form of left heart obstructive defects revealing maternal phenylketonuria].
Saliba Z, Bah G, Martin D, Abadie V, Azar Z, Fraisse A, Sidi D, Kachaner J, Bonnet D.
Arch Mal Coeur Vaiss. 2000;93(5):649-52.
These observations suggest that when confronted to recurrent heart malformations with extra-cardiac defects that are not due either to an inherited chromosomal anomaly or to a well characterized mendelian disease, a maternal teratogen should be identified and more particularly maternal hyperphenylalaninemia if an intra-uterine growth retardation or a microcephaly is part of the syndrome.
9853062
 FEMALE Adult
[Diagnosis of phenylketonuria in a 35-year-old mother in relation to prenatal diagnosis of intrauterine growth retardation with microcephaly].
Thibaud D, Ploussard JP, Vaquant PO, Chemouny S, Kleitz T.
Arch Pediatr. 1998;5(11):1229-31.
Fetus or infant born with unexplained growth retardation and microcephaly requires search for maternal PKU.
8101749
 MIXED_SAMPLE Infant, Newborn
Successful management of a pregnancy with maternal phenylketonuria: report of a case.
Huang RT, Lin SJ, Kuo PL, Peng CJ.
J Formos Med Assoc. 1993;92(2):182-4.
Maternal phenylketonuria (PKU) is associated with significant complications such as mental retardation, microcephaly and congenital heart defects in nonphenylketonuric offspring.
3611635
 MALE Infant
Abnormal cerebral cortical neurons in a child with maternal PKU syndrome.
Lacey DJ, Terplan K.
J Child Neurol. 1987;2(3):201-4.
This is the first report of specific neuronal abnormalities in a child with the maternal PKU syndrome and may, in part, account for the clinical features of microcephaly, mental retardation, and seizures seen in affected children.