Mitochondrial Complex III Deficiency Nuclear Type 5: A Genetic Puzzle Unraveled
Symptoms of Complex III Deficiency Nuclear Type 5 usually appear in infancy or early childhood: hypoglycemia, lactic acidosis, muscle weakness and neurological problems.
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
Mitochondrial Complex III Deficiency Nuclear Type 7: Unraveling the Genetic Puzzle
Genetic testing can pinpoint the UQCRB change behind Complex III Deficiency Nuclear Type 7, a disorder with repeated episodes of hypoglycemia and lactic acidosis.
Mitochondrial Complex V (ATP Synthase) Deficiency Nuclear Type 4: Unraveling the Genetic Mysteries
Carrier screening and next-generation sequencing panels can identify the ATP5MK mutations behind nuclear type 4 deficiency, which affects muscle and the nervous system.
Mitochondrial DNA Deletion Syndrome with Progressive Myopathy: Unraveling the Genetic Threads
Deletions in mitochondrial DNA weaken muscle over time, with fatigue and ophthalmoplegia; identifying the specific deletions supports monitoring and genetic counseling.
Mapping Mitochondrial DNA Depletion Syndrome 11: Unraveling the Genetic Threads
RRM2B helps maintain mitochondrial DNA, and a novel variant found in an infant illustrates how MDDS11, inherited in an autosomal recessive pattern, is identified.
Mitochondrial DNA Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive: A Genetic Detective Story
Both parents must carry an FBXL4 mutation for a child to be affected by this recessive cardiomyopathic form, which involves heart and skeletal muscle in early childhood.
Mastering the Mysteries of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3: The Role of Genetic Testing
PIGT mutations disrupt the GPI anchors that attach proteins to the cell surface, producing congenital anomalies, profound hypotonia and recurrent seizures in MCAHS3.
Decoding the Enigma: Multiple Mitochondrial Dysfunctions Syndrome 3 and the Promise of Genetic Testing
A homozygous missense mutation in BOLA3 disrupts iron-sulfur cluster assembly, producing the severe neurological impairment and developmental delays seen in MMDS3.