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Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...
The children, he concluded, had excess phenylpyruvic acid in the urine, the condition which came to be called phenylketonuria (PKU). [ 19 ] His analysis of the urine of the two affected siblings led him to request many physicians near Oslo to test the urine of other affected patients.
Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children. [2] [3] FTT is usually defined in terms of weight, and can be evaluated either by a low weight for the child's age, or by a low rate of increase in the weight.
Selectional pleiotropy occurs when the resulting phenotype has many effects on fitness (depending on factors such as age and sex). [1] An example of pleiotropy is phenylketonuria, an inherited disorder that affects the level of phenylalanine, an amino acid that can be obtained from food, in the human body. Phenylketonuria causes this amino acid ...
Since then, Guthrie card samples have been collected routinely from infants in over 20 countries to screen for phenylketonuria and more recently for congenital hypothyroidism, sickle cell disorders and HIV infection. The limitations of sensitivity and specificity when screening such small volumes of blood restricted the use of dried blood spots ...
Low protein consumption appears to reduce the risk of bone breakage presumably through changes in calcium homeostasis. [1] Consequently, there is no uniform definition of what constitutes low-protein, because the amount and composition of protein for an individual with phenylketonuria would differ substantially from one with homocystinuria or ...
Known environmental factors include certain infections during pregnancy such as rubella, drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus). [33] Alcohol exposure in the father also appears to increase the risk of congenital heart defects. [34]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.