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.

Hypoplasia of the corpus callosum

Underdevelopment of the corpus callosum.


合計: 2

                       


（表示件数）
PMID (PMCID)
8648535
 MIXED_SAMPLE Infant
Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring.
Levy HL, Lobbregt D, Barnes PD, Poussaint TY.
J Pediatr. 1996;128(6):770-5.
However, hypoplasia of the corpus callosum was present in three of the four offspring from untreated pregnancies and in the offspring from a maternal PKU pregnancy not treated until the third trimester.
8648535
 MIXED_SAMPLE Infant
Maternal phenylketonuria: magnetic resonance imaging of the brain in offspring.
Levy HL, Lobbregt D, Barnes PD, Poussaint TY.
J Pediatr. 1996;128(6):770-5.
However, hypoplasia of the corpus callosum is a feature of maternal PKU and is probably a result of inhibition of corpus callosum development at 8 to 20 weeks of gestation.