[MIM 261 600]

(Hyperphenylalaninemic embryopathy)

Embryopathy occuring in non-phenylketonuric children born from a mother with hyperphenylalaninemia or phenylketonuria (see this term), with too high blood levels of phenylalanine (poorly followed diet). The problem is prevented if phenylalanine levels are maintained below 360 µmol/L before and during the pregnancy.

Clinical presentation:

-        microcephaly (60 %),

-        intrauterine growth retardation,

-        congenital heart disease (10 %): tetralogy of Fallot, VSD, patent ductus arteriosus, aortic or mitral stenosis

-        intellectual deficit (90 %)

-        facial dysmorphism: coloboma, cleft palate, malformed ears

-        other abnormalities: esophageal atresia, anal atresia, renal agenesis, hypospadias, syndactyly

Anesthetic implications:

according to the associated malformations

References :

-        Rouse B, Azen C.
Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy.
J Pediatr 2004 ; 144 : 235-9.

-        Prick BW, Hop WCJ, Duvekot JJ.
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies.
Am J Clin Nutrition 2012 ; 95 : 374-82

Updated: March 2020