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Scientists at Emory University developed flies that carry genetic changes similar to those found in patients with galactosemia.
Disorders included in provincial screening programs (41) congenital Duchenne biotinidase adrenal muscular hypothy deficiency hyperplasma dystrophy roidism galactosemia PKU AB X X X BC (42) X X X MB X X X (43) X X X NB (44) X X NF X X NS (45) X X ON (46) X X ON (46) X X PEI X X SK X X MACD tyrosinemia Deficiency AB BC (42) MB NB (44) NF X NS (45) X ON (46) ON (46) PEI SK
Today, all but two states screen for galactosemia in the heel-prick blood droplet from the newborn.
Transient galactosemia detected by neonatal mass screening.
Hepatic steatosis may also be present in various clinical states, such as diabetes, obesity, drug reactions (tetracycline, corticosteroids, and amiodarone), exposure to phosphorus, viral infections, inflammatory bowel disease, and pregnancy, and also in childhood diseases, such as Reye syndrome, galactosemia, and abetalipoproteinemia.
Richard Schreiner is a neonatologist who helped Indiana pass the law for screening all newborns for galactosemia.
Galactosemia is a rare hereditary disease leading not only to cirrhosis in infants, but, more seriously, to early, devastating illness if not diagnosed quickly.
In 2007, NBS for inborn errors of metabolism was expanded from 1 disorder (PKU) to 14 disorders, including, among others, MCAD, various disorders of long-chain fatty acid oxidation, galactosemia, biotinidase deficiency, and maple sugar urine disease.
Monitoring neonatal hypoglycaemia with the Accucheck Advantage II glucose meter: The cautionary tale of galactosemia (Letter).
The Newborn Screening Laboratory tests all Indiana newborns for six disorders: five metabolic--hypothyroidism, Maple Syrup Urine Disease, phenylketonuria (PKU), galactosemia, homocystinuria--and sickle cell disease, a hematologic disorder.

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