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Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism of sucrose (sugar) and starch (e.g., grains), is not produced or the enzyme produced is either partially functional or non-functional in the small intestine.
Nutritional genomics, also known as nutrigenomics, is a science studying the relationship between human genome, human nutrition and health. People in the field work toward developing an understanding of how the whole body responds to a food via systems biology , as well as single gene/single food compound relationships.
Mitochondrial trifunctional protein deficiency; Other names: TFP deficiency [1] Mitochondrial trifunctional protein deficiency has an autosomal recessive pattern of inheritance: Symptoms: Cardiomyopathy, skeletal myopathy [2] Types: Mutations in the HADHA and HADHB gene [2] Diagnostic method: CBC, Urine test [3] Treatment: Low fat diet, Limited ...
Diagnosis is based on symptoms and supported by blood tests and genetic testing. [2] Affected persons must avoid dietary triggers, [3] notably fava beans. [7] This can be difficult, as fava beans may be called "broad beans" and are used in many foods, whole or as flour.
Citrin deficiency has four primary phenotypes that are age dependent. These include neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) that affects infants, the adaptation or silent period, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) and adolescent and adult citrin deficiency (AACD) (formerly termed CTLN2), which represents the most severe form of ...
“Testing for vitamin deficiencies, such as vitamin D and vitamin B12, especially in vegetarians, is crucial. Additionally, I would screen for thyroid disorders if other symptoms suggest such a ...
While awaiting confirmatory testing for classic galactosemia, the infant is typically fed a soy-based formula, as human and cow milk contains galactose as a component of lactose. [4] Confirmatory testing would include measurement of enzyme activity in red blood cells, determination of Gal-1-P levels in the blood, and mutation testing.
Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.
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