Related Experiment Video
Updated: Mar 16, 2026

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
Published on: June 28, 2024
Maternal phenylketonuria
Two cases of maternal phenylketonuria are presented. The first woman, untreated, had 3 children. Her first child was of normal intelligence but had serious personality problems. The second had a major cardiac abnormality incompatible with life. The third had phenylketonuria and was successfully treated from early infancy. The second woman was treated on a low phenylalanine diet from 8 weeks gestation and gave birth to a child without congenital abnormalities who is now 23 months old and is of normal intelligence.
Two cases of maternal phenylketonuria are presented. The first woman, untreated, had 3 children. Her first child was of normal intelligence but had serious personality problems. The second had a major cardiac abnormality incompatible with life. The third had phenylketonuria and was successfully treated from early infancy. The second woman was treated on a low phenylalanine diet from 8 weeks gestation and gave birth to a child without congenital abnormalities who is now 23 months old and is of normal intelligence.
Related Concept Videos
Inborn Errors of Metabolism
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Pathophysiology of Diabetes
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Pharmacokinetics in Pediatric Patients: Drug Metabolism
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

