Treating genetic problems is the mission of Clinic for Special Children in Strasburg, Pennsylvania, which has developed effective treatments for such problems as maple syrup urine disease, a previously fatal disease.
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Maple syrup urine disease affects about one out of 180, 000 infants in the general population . however, the disease has a much higher prevalence in children of Amish, Mennonite, and Jewish descent.
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"This is what it takes to keep him alive, " said Glenda Groff, a Mennonite whose 8-year-old son has a genetic disorder called maple syrup urine disease, which is fatal without a proper diet.
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The other four are congenital adrenal hyperplasia, a set of inherited disorders involving the synthesis of hormones; biotinidase deficiency, involving a crucial enzyme; maple syrup urine disease, a rare inborn metabolic disorder, and homocystinuria, another rare enzyme deficiency.
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Inability to break down isoleucine, along with other amino acids, is associated with the disease called Maple Syrup Urine Disease, which results in discoloration and a sweet smell in the patient's urine, which is where the name comes from.
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Although Guthrie is best known for developing the test for phenylketonuria, he worked tirelessly to raise awareness of the need to screen for treatable conditions and adapted his method to early screening tests for galactosemia and maple syrup urine disease.
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This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease ( MSUD ), type 1B . Alternative splicing at this locus results in transcript variants with different 3'noncoding regions, but encoding the same isoform.
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The clinic treats about 1, 200 active patients for over 150 genetic disorders or syndromes such as glutaric aciduria ( GA1 ), maple syrup urine disease ( MSUD ), Crigler-Najjar syndrome ( CNS ), and medium-chain acyl-CoA dehydrogenase deficiency ( MCADD ).
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In 1957, as a pediatric neurology fellow ( with a research budget of $ 35 ), he encountered another case of maple syrup urine disease and was able to identify branched chain keto acids in the urine samples . and the metabolic defect would be identified as an X-linked recessive error in copper transport.
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After the success of newborn screening for PKU ( 39 infants were identified and treated in the first two years of screening, with no false negative results ), Guthrie and others looked for other disorders that could be identified and treated in infants, eventually developing bacterial inhibition assays to identify classic galactosemia and maple syrup urine disease.
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