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Discussion 6
This week’s clinicals went well, there were no challenges, and the week was successful. This week we had a 6-year-old Caucasian male that came into the clinic for a routine check-up. Physical assessment was done, with no abnormal findings, vital signs was within normal limits for his age. What was interesting was that this child has a condition known as MCAD deficiency. MCAD stands for medium-chain acyl-CoA dehydrogenase deficiency. It is an inherited disorder that prevents your body from breaking down certain fats and converting them into energy. Due to the prevention of the body breaking down these certain fats and converting them into energy it causes the levels of sugar in your body to drop resulting in hypoglycemia (MayoClinic, 2020). It is caused by mutations in the ACADM gene (Rarediseases, 2017). This leads to the low levels of the enzyme called medium chain acyl-CoA dehydrogenase which is needed to break down fats called medium chain fatty acids (Raredisease, 2017). I learned that MCAD deficiency signs and symptoms usually first appears in babies and young children, but in rare cases the deficiency can be diagnosed in adulthood. Some of the signs and symptoms vary among the people who are diagnosed with this deficiency such as vomiting, lack of energy, and low blood sugar. I learned that with this deficiency it is important to monitor for signs and symptoms of hypoglycemia. I also learned that it is important to monitor children who have MCAD who are sick for signs and symptoms of hypoglycemia because infections can trigger hypoglycemia. The mother of this child stated that she must make sure that he eats regularly every 2-3 hours so that his sugars won’t drop. She must monitor him constantly as children sometimes do not voice or are not attentive to what is going on to their bodies. Causes of this deficiency include inherited genes of this deficiency from both parents. Although both parents are carriers, each one has an abnormal gene, they sometimes and typically do not have symptoms of the deficiency. The child inherits two copies of the abnormal gene, one from each parent. I also learned that if you only inherit one of the abnormal gene, then you will not have the deficiency, but can pass the abnormal gene to your future children, since you are the carrier, but the child might not develop the condition unless they also inherited an abnormal gene from their other parent.
Diagnosis of MCAD is done through newborn screening followed by genetic testing. Also, through the episodes of low blood sugar which are evaluated by a discussion of signs and symptoms. The condition can be managed by diet and lifestyle. The main goal in managing and treatment of MCAD is to prevent low blood sugar/hypoglycemia from occurring. Newborns/infants may require frequent feedings with substantial and adequate calories from complex carbohydrates in order to prevent hypoglycemia. Children and adults who are diagnosed with MCAD are at a higher risk of decrease liver dysfunction, decrease plasma total carnitine, exercise induce myalgia, dicarboxylic aciduria, arrythmias, renal disease, and obesity due to the increase of feedings. (Rarediseases, 2017). Biochemical testing such as plasma acylcarnitine analysis, urine organic acid analysis and urine acyl glycine analysis, measurement of the MCAD enzyme activity, analysis of fatty acid beta oxidation can also be done. Differential diagnosis for this disease includes hypoketotic hypoglycemia, rye syndrome, systemic primary creatinine deficiency also known as creatinine uptake defect.
Plan of care and management for a child diagnosed or with this condition should include monitoring labs such as plasma acylcarnitine analysis, plasma free and total creatinine levels, urine organic acid analysis, referral to a genetic counselor. LFTs, blood sugar monitoring, lactic acid, ABGs, CBC with differential, BMP, electrolytes.
References
MCAD deficiency – Symptoms and causes. (2020, May 30). Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/mcad-deficiency/symptoms-causes/syc-20353745 (Links to an external site.)
Medium-chain acyl-coenzyme a dehydrogenase deficiency. (2017, August 29). Genetic and Rare Diseases Information Center (GARD) – an NCATS Program | Providing information about rare or genetic diseases. gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency” rel=”noreferrer noopener” target=”_blank”>https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency (Links to an external site.)
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