Description
A 4-year old girl is brought into the A & E Department because she lost consciousness. The girl is hypoglycaemic, with a glucose concentration of 3.6 mmol/L glucose (normal range: 4.0 to 5.4 mmol/L).
There is no history of diabetes. However, the parents report that the girl had been suffering from gastroenteritis, with prolonged vomiting and diarrhea. Following appropriate tests, it is established that the patient is suffering from the disease medium chain acyl-CoA dehydrogenase (MCAD) deficiency.
Molecular analysis revealed a more uncommon point mutation that is causing the disease: a C -> T point mutation is found at position 362 in exon 5 of the MCAD gene.
Answer the following questions
Describe in your Synoptic Essay the disease MCAD. Consider in your answer mitochondrial βoxidation of fatty acids in healthy individuals, both at the molecular but also at the organ level, and include how substances are distributed in the entire body via the circulatory system. Describe what changes happen in patients with MCAD disease at molecular, physiological, and anatomical levels.
As part of your answer consider giving a brief overview of transcription in healthy human cells and then describe how the specific mutation indicated above results in MCAD. Finally, indicate how this disease can be clinically confirmed and what adjustments have to take place for successful management of the disease.
References
Douglas A.G.L. and M.J.A Wood (2011). RNA splicing: disease and therapy. Briefings in Functional
Genomics 10 (3), 151−164
Vish wanath V.A. (2016). Fatty Acid Beta-Oxidation Disorders: A Brief Review. Ann Neurosci 23, 51–55
