It is recommended that patients with CMRD follow a strict low-fat diet in addition to fat-soluble vitamin supplementation. The fat soluble vitamins are A,D,E, and K. A combination of vitamin A and vitamin E are effective for combating ophthalmologic complications. When vitamin D is administered early, it aids in preventing osteopenia. People with CMRD are at an increased risk for essential fatty acid deficiency, so dietary counseling is required in order to maintain the low-fat diet, while attaining sufficient caloric intake and essential fatty acid intake. Proposed Treatment Plan Early diagnosis is important for improving patient outcomes. Patients with delayed diagnoses experienced decreased growth compared to those diagnosed earlier in life. Long-term treatment plans center around dietary management, but because long term results have not been documented due to a lack of thorough research, careful monitoring of the<unk>  is required. Yearly check-ups are recommended to track the growth of children affected by the<unk> . Evaluations tracking liver function that involve the use of ultrasounds to monitor liver growth, are recommended to be administered every three years. At about ten years of age (pre-puberty), neurological and ophthalmological exams may be required every three years to track muscle and eye activity/strength. In adulthood, past eighteen years of age, echocardiograms are recommended to track heart activity. Thorough and vigorous testing warrant themselves to the treatment of a<unk>  of which we know so little. Early Follow-Up(Annual) Clinical Anthropometry Weight and height to draw growth curve Digestive Appetite, diarrhea, abdominal distension, vomiting, hepatic size? Neurological Developmental retardation, areflexia, ataxia, dysarthria, deep proprioception loss, muscular weakness or pain, cramps? Dietary counseling Sufficient caloric intake, low fat diet (fat <30% total energy), EFA supplementation? Biological Lipids Total and LDL cholesterol, HDL-C, TG Hepatic AST, ALT, GGT, total bilirubin, alkaline phosphatase? Vitamins Plasma levels of vitamins A, D, E and K or INR (vit K deficiency) Essential Fatty Acids Deficiency induced by low fat diet? Blood cell count Anemia? Delayed Follow-Up (every 3 years) After the age of 10 years Hepatic Ultrasonography (steatosis, portal hypertension, yearly), Elastometry Fibroscan®? (further studies are needed) Neurological exam Clinical, creatine kinase, electromyography Ophthalmologic exam Fundus, color vision, visual evoked potentials, electroretinography Total body composition Bone mineral content for whole body Adult age Echocardiography Ejection fraction
Chylomicron retention disease
Lysinuric protein intolerance
Inborn errors of carbohydrate metabolism
Acid lipase disease
Hereditary fructose intolerance
Glucose-galactose malabsorption
Glycogen storage disease type 0
Congenital chloride diarrhea