MODY1 is caused by mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A) on chromosome 20.
MODY2 is caused by mutation in the glucokinase gene (GCK) on chromosome 7.
MODY3 is caused by mutation in the hepatic transcription factor-1 gene (TCF1) on chromosome 12q24.2.
MODY4 is caused by mutation in the insulin promoter factor-1 gene (IPF1) on chromosome 13q12.1.
MODY5 is caused by mutation in the gene encoding hepatic transcription factor-2 (TCF2) on chromosome 17cen-q21.3.
MODY6 is caused by mutation in the gene encoding neurogenic differentiation 1 (NEUROD1) on chromosome 2q32.
Note that genes for MODY are on at least 6 different chromosomes. But two forms, MODY1 and MODY3, are due to mutations in genes that encode hepatocyte nuclear factors (HNF) — transcription factors that govern the expression of other genes.
The major bone of the upper jaw.
Bachelor of Medicine and Bachelor of Surgery degrees, which are awarded in the U.K. and other countries (such as New Zealand and South Africa) after 5 years of what is analogous to a combined undergraduate-graduate course of study. As a rule, the first two years of the program leading to the MBChB are designed to […]
- MCAD deficiency
hypoglycemia (Low blood sugar), vomiting, lethargy, encephalopathy (brain disease), respiratory arrest, hepatomegaly (enlarged liver), seizures, apnea, cardiac arrest, coma, and sudden death. Long-term outcomes may include developmental and behavioral disability, chronic muscle weakness, failure to thrive, cerebral palsy, and attention deficit hyperactivity disorder (ADHD). A precipitating factor is needed for clinical symptoms to present. It […]
- McArdle disease
Glycogen storage disease type V and the most common type of glycogen storage disease. McArdle disease is an autosomal recessive disorder caused by mutations in the gene that encodes myophosphorylase, an enzyme that is essential for glycogenolysis. Exercise intolerance usually develops during childhood, along with pain, cramps, and fatigue in exercised muscle. These symptoms are […]
The Medical College Admissions Test, a test that is required of all applicants to medical school in the U.S. and Canada. The MCAT is “a standardized test used to assess applicants’ science knowledge, reasoning, and communication and writing skills.” The MCAT is administered by the Association of American Medical Colleges.