Serotonin deficiency in phenylketonuria embryopathy

Vitamin K Deficiency Embryopathy from Hyperemesis Gravidarum

A 21-year-old primigravida had a pregnancy complicated by hyperemesis gravidarum (HG) beginning at 7-week gestation. Despite medical therapy, she lost 18% of her prepregnancy weight. Early ultrasound at 14 weeks demonstrated a flattened facial profile with nasal hypoplasia (Binder phenotype) consistent with vitamin K deficiency from HG. She had a percutaneous endoscopic gastrojejunostomy tube p...

Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency

10.1586/EEM.10.39 Phenylketonuria Phenylketonuria (PKU; Online Mendelian Inheritance in Man No. 262600) is a genetic disorder characterized by a deficiency of the hepatic enzyme phenylalanine-4-hydroxylase (PAH; EC 1.14.16.1), causing elevated concentrations of phenylalanine (Phe) in the blood and brain. Hyperphenylalaninemia (HPA) can also be caused by a deficiency of tetrahydrobiopterin (BH4)...

Scientific News Contrasting Phenotypes of Fetal Alcohol Syndrome, Toluene Embryopathy and Maternal Phenylketonuria

'Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency.

DHPR deficiency is a rare autosomal recessively inherited metabolic disorder of tetrahydrobiopterin (BH4) regeneration. Clinical symptoms may comprise microcephaly, developmental delay, ataxia and seizures. BH4 is the cofactor for the enzyme phenylalanine (Phe)hydroxylase (PAH), and for tryptophan and tyrosine hydroxylases, both of which are essential for serotonin and dopamine biosynthesis. We...

Challenges in Understanding Diabetic Embryopathy

Perhaps one of the most devastating diabetes complications is diabetic embryopathy, in which the offspring of a mother with diabetes predating pregnancy develops congenital malformations. These malformations can affect multiple organ systems, including the brain and spinal cord, the heart and major vessel, the kidneys, the gut, and skeletal structures (1,2) and result in preor postnatal mortali...