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Other genetic conditions such as androgen insensitivity syndrome and 5-alpha reductase deficiency result in a mismatch between XY genotype and biological structure, or in biological ambiguity.
The brain and the heart have an absolute requirement for oxidative metabolism, and it is generally thought that the clinical symptoms observed during thiamine deficiency result from decreased tissular ThDP levels.
Extreme cases of Zn deficiency result in impaired infant growth and development [3] and there is now strong evidence that even mild Zn deficiency contributes significantly to the many deaths annually worldwide from malaria, diarrhoea, measles and pneumonia that have been attributed to malnutrition [4].
In humans, the only known sequelae of NAGS deficiency result from decreased flux through the CPS1 reaction.
Conversely, homocystinuria due to either MTHFR or MTR deficiency result in significantly lower levels of methionine compared to normal subjects.
Elevated IGF2 levels during murine development arising from M6P/IGF2R deficiency result in cardiac abnormalities, cleft palate, fetal overgrowth and perinatal lethality [ 15, 18].
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Another genetic defect, 18-hydroxylase deficiency, results in aldosterone deficiency.
This deficiency results in destruction of red cells (hemolysis).
An educated guess is that iodine deficiency results in a needless loss of more than 1 billion I.Q.
Folic acid deficiency results in an impaired maturation of red blood cells (erythrocytes).
Dystrophin deficiency results in lethal Duchenne muscular dystrophy (DMD).
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