The Sage of Tea and the Inherited Metabolic Diseases.

Background: Lu Yu (733-804 AD, Tang Dynasty) was an orphan raised and educated in a monastery. His profound knowledge of tea earned him the title "the Sage of Tea." This paper explores the possibility that Lu Yu may have been a patient of inherited metabolic diseases (IMDs), particularly phenylketonuria (PKU), considering historical records and unique aspects of his life. Case Presentation: Examining Lu Yu's orphaned upbringing, clinical manifestations noted in his autobiography, dietary preferences, and the significance of his name, this study postulates that he may have had IMDs, notably PKU. His life choices, such as abstaining from meat and fish and favoring a low-protein diet during his time in a monastery, align with practices recommended for managing IMDs. The linguistic associations of his name further reinforce this hypothesis. Conclusions: This investigation sheds light on the intriguing possibility that Lu Yu may have been affected by IMDs, notably PKU. By considering historical context, clinical correlations, dietary choices, and name symbolism, we offer a unique historical perspective on this celebrated figure's health. Further research could provide valuable insights into both his life and the broader medical practices of the Tang Dynasty.

Genetic Counseling and Prenatal Diagnosis of a Maternally Inherited 15q11.2 Microduplication.

Unbalanced chromosome abnormalities (UBCA) are large genomic region variations that often result in minimal clinical effects. Copy number variants (CNVs), such as microdeletions and microduplications in 15q11.2, have been linked to various health issues, making prenatal diagnosis and genetic counselling challenging. Microdeletions and microduplications in the genomic region 15q11.2 are associated with congenital heart defects, autism, schizophrenia, epilepsy, mental retardation and developmental delay. The literature on this microduplication is confusing and extensive, which is a great difficulty for prenatal diagnosis and genetic counselling. A 35-year-old female undergoing amniocentesis at Week 19 due to advanced maternal age revealed a normal 46,XX karyotype through G-banding analysis. However, Chromosomal microarray analysis (CMA) on the same amniocytes detected a 550-Kb maternally inherited chromosomal microduplication in 15q11.2. An integrated approach combining karyotype analysis, CMA, genetic counseling, and prenatal ultrasound is crucial for the accurate prenatal diagnosis of UBCAs and CNVs.