Decoding Maple Syrup Urine Disease: A Deep Dive into Genetic Testing and Diagnosis
When biochemical results are inconclusive, sequencing BCKDHA, BCKDHB and DBT can confirm this milder form of maple syrup urine disease, with symptoms appearing later.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Demystifying McArdle Disease: A Guide to Understanding, Diagnosing, and Genetic Testing
Discover McArdle Disease, its symptoms, diagnosis, and the importance of genetic testing in detecting PYGM gene mutations, guiding treatment, and family planning.
Unlocking the Mysteries of Late-Onset Metachromatic Leukodystrophy: Genetic Testing and Diagnosis
Adult gait disturbance, speech difficulty and memory loss can mimic multiple sclerosis, so ARSA gene testing and white matter MRI patterns help confirm MLD.
Diagnosing Metachromatic Leukodystrophy: ARSA Testing
Enzyme activity in blood, urine or skin cells, MRI of white matter and ARSA sequencing are combined to confirm MLD and to support carrier and prenatal testing.
Decoding Metachromatic Leukodystrophy: Understanding, Diagnosing, and Genetic Testing
Newborn screening and ARSA testing come up early here, because myelin loss brings muscle weakness, poor coordination, seizures and cognitive decline over time.
Recurrent Myoglobinuria and UQCRC2 Gene Mutations
Damaged muscle releases myoglobin into urine, which can injure the kidneys. Mutations in UQCRC2 lower cellular energy production in this condition.
Mucopolysaccharidosis Type VI: ARSB Testing and Galsulfase
Joint stiffness, skeletal changes and corneal opacity follow a shortage of arylsulfatase B; ARSB testing confirms MPS VI and galsulfase infusions are reviewed.
MPS VI (Maroteaux-Lamy): Carrier and Prenatal Testing
Both parents must carry an altered ARSB gene for a child to be affected; carrier testing, prenatal diagnosis and what mutations suggest about severity are set out.