The Exciting, Emotional and often Misunderstood World of Bill Lefkowitz December-ish 2001 PKU (Phenylketonuria) Disorder of phenylalanine hydroxylation leading to accumulation…

1. Bill Lefkowitz December-ish 2001 The Exciting, Emotional and often Misunderstood World of NEWBORN SCREENING 2. PKU (Phenylketonuria) Disorder of phenylalanine hydroxylation…

PowerPoint Presentation Disorders of tyrosine (phenylalanine) metabolism Gandham.Rajeev Email:[email protected] Phenylketonuria (PKU) Enzyme defect: Deficiency of…

Slide 1Bill Lefkowitz December-ish 2001 The Exciting, Emotional and often Misunderstood World of Slide 2 PKU (Phenylketonuria) Disorder of phenylalanine hydroxylation leading…

Slide 1 PATTERNS OF INHERITANCE AND HUMAN GENETICS BY DAWN M. THOMPSON Slide 2 SIMPLE RECESSIVE INHERITANCE ► CYSTIC FIBROSIS:CF 1. Common in white Americans 1:2000 2.…

Slide 1 Seven Amino Acids Are Degraded to Acetyl-CoA 1Dr. Nikhat Siddiqi Slide 2 All the amino acids that form pyruvate can also form acetyl CoA via pyruvate dehydrogenase.…

Chapter 14 The Human Genome Chapter 14 14.1: Human Heredity Humans have 46 chromosomes (23 from each parent) 44 chromosomes are autosomes 2 chromosomes are sex chromosomes…

Dr. Saidunnisa Dr. Saidunnisa, MD Professor of Biochemistry Aromatic amino acid (phenylalanine and tyrosine )metabolism and its inborn errors. Learning Objectives At the…

Chapter 14 The Human Genome Chapter 14 14.1: Human Heredity Humans have 46 chromosomes (23 from each parent) 44 chromosomes are autosomes 2 chromosomes are sex chromosomes…