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Metabolic disorders- Carbohydrate metabolism
- January 26, 2020
- Posted by: Namrata Chhabra
- Category: Quick Revision Series
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S.N. | Process/Pathway affected | Disease | Major Manifestation |
1) | Digestion | Lactose intolerance
Sucrase/Isomaltase deficiency |
Inability to digest dairy products, bloating, pain- abdomen, diarrhea or constipation, etc. |
2) | Absorption (SGLT-1or SGLT-2 deficiency) | Glucose/Galactose malabsorption
|
Impaired dietary glucose/galactose absorption (SGLT-1), or
Renal glycosuria (SGLT-2) |
3) | Glycolysis | Hexokinase or Pyruvate kinase deficiency (
|
Hemolytic anemia |
4) | PDH Complex | PDH complex Deficiency | Failure to thrive, hypotonia and lactic acidosis, etc. |
5) | TCA Cycle | Vital to life, no diseases as yet has been reported | Fatal |
6) | HMP Pathway | G-6-P dehydrogenase deficiency | Hemolytic anemia or Jaundice |
7) | Gluconeogenesis | An imbalance between demand and supply | Hypoglycemia |
8) | Uronic acid pathway | Essential pentosuria | Benign and symptomless |
9) | Glycogen metabolism pathways | Glycogen storage diseases | Hypoglycemia decreased exercise tolerance and hepatomegaly (symptoms depend on tissue expression of the defect) |
10) | Fructose metabolism | Fructosemia & Hereditary fructose intolerance | Inability to digest fructose or fructose-containing nutrients |
11) | Galactose metabolism | Galactosuria & Galactosemia | Galactosuria (mostly benign)
Galactosemia- Premature cataract, mental retardation, hepatomegaly and jaundice |
12) | Blood glucose homeostasis | Impaired glucose tolerance, Diabetes mellitus | Classical symptoms of Polyuria, polydipsia, polyphagia, and the symptoms of complications. |
Author:Namrata Chhabra

With over 38 years of experience as a Medical Educator, Medical Biochemist, and Researcher, Dr. Namrata Chhabra has a proven track record of leading and contributing to clinical, academic, and research initiatives that advance medical science and education. She holds an M.B.B.S., an M.D. and Ph.D. in Medical Biochemistry, and a Master's in Health Professions Education (MHPE). She is also a FAIMER Fellow, a prestigious recognition of her excellence in medical education and research.
Currently, she serves as the Associate Dean of Admissions, Chair of the Admissions Committee, and a Professor of Biochemistry at the American University of Antigua College of Medicine (AUACOM). In this role, she oversees the academic quality, curriculum development, faculty development, accreditation processes of the college, and student recruitment. She also teaches and mentors medical students, conducts and supervises biomedical and educational research projects, and publishes and presents her findings in national and international journals and conferences. Additionally, she is the author of three comprehensive textbooks on Medical Biochemistry, which are widely used by medical students and professionals. She is passionate about improving the health outcomes of communities and individuals by fostering a culture of innovation, collaboration, and excellence in medical education and research.
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