IDUA Pseudodeficiency: Low Enzyme Activity, No MPS Signs
Reduced alpha-L-iduronidase activity without the usual mucopolysaccharidosis symptoms can confuse enzyme tests; whole genome and targeted IDUA analysis tell them apart.
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
Unlocking the Mysteries of Immunodeficiency 60: Genetic Testing and Beyond
Neutrophil shortage caused by ELANE mutations leaves patients open to recurrent fevers, skin infections and pneumonia, which DNA testing helps confirm.
Unlocking the Mysteries of Immunodeficiency 66: Genetic Testing and Its Role in Diagnosis and Treatment
Autoinflammation accompanies the repeated infections seen here, with PSMB9 and ELF4 variants reported and reduced DNA repair described in some CVID patients.
Kappa-Opioid Analgesia in Females: Genes and Research
Stronger pain relief from kappa-opioid receptor agonists in females, a pattern reported for xylazine in mice, is examined alongside KOR circuits and markers.
Decoding Infantile Hypophosphatasia: Understanding, Diagnosing, and Harnessing the Power of Genetic Testing
Low alkaline phosphatase activity from ALPL mutations leaves bone poorly mineralized, bringing rickets and fractures within the first six months of life.
Decoding Infertility: Genetic Testing for a Better Understanding and Diagnosis
Y chromosome microdeletions, SYCP3 variants and genes behind sperm flagella defects feature in male cases, while chromosomal and endocrine factors appear in female ones.
Inflammation: Chronic Causes and What Genes Reveal
Chronic inflammation is tied here to psoriasis and cardiovascular risk, E. faecalis damage in gastric cells and LTB4-driven insulin resistance, with gene testing uses.
Demystifying Insulin Resistance: The Interplay of Genetics and Lifestyle
When cells stop responding properly to insulin, blood sugar rises and type 2 diabetes risk grows; variants in NLRP3 may interact with dietary saturated fat.