Amino acid disorders / Homocystinuria
Joseph was diagnosed late with homocystinuria. He describes the challenges in living with this disorder, including the treatment and its demanding rigors, insurance coverage, etc. Aspects of Joseph’s neurologic phenotype can be viewed (note his expressive speech pattern and speech content), as well as his aphakic lenses.
Amino acid disorders / Homocystinuria
In this video, Sarah (a nurse) describes her children’s diagnostic journey to find out their diagnosis. She reviews the complexity of therapy for homocystinuria, and discusses some of her hopes and fears about their future.
Amino acid disorders / Homocystinuria
The narrator, a health professional, begins the clip by providing a brief overview of how homocystinuria impacts the body. Benjamin’s parents describe his course as a young child, and the steps they took to identify his treatment plan. Benjamin talks about the disease and its impact on his life.
Amino acid disorders / Homocystinuria
In this video, Ethan’s parents describe their experience in finding out about his homocystinuria through newborn screening. A metabolic expert gives a general overview of the phenotype and the underlying pathobiochemistry. He discusses the dietary approach and the parents comment on the challenges of dealing with the disorder.
Amino acid disorders / Homocystinuria
Danae is executive director of HCU Network America. She describes how she was diagnosed with homocystinuria, and the daily routine she follows to manage her diet and disease. She also talks about her hopes and what makes her anxious about the disease.
Amino acid disorders / Homocystinuria
Throughout this video, Stacey discusses her experience growing up with homocystinuria and how it has affected her family and her lifestyle. Two metabolic experts provide a medical perspective of the disease and how it impacts management of the patient. The importance of newborn screening in identifying affected babies so treatment can begin is emphasized.
Amino acid disorders / Homocystinuria
Kristin has homocystinuria and describes her experience in living with the disease for 40 years. She reviews the details in her treatment, taking formula and various supplements. She also discusses some of her hopes and fears in living with homocystinuria.
Amino acid disorders / Phenylketonuria (PKU)
This is an historically significant movie that records the first implementation of a low-phenylalanine diet in a patient with PKU (1954-1955) in the UK. The film includes a summary of the patient’s case. Dr. Harvey Levy introduces the video clip.