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Children's Medical Services - Special services for children with special needs
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Disorders found by Newborn Blood Screening

Biotinidase Deficiency is when the body is unable to use the vitamin biotin. It can result in seizures, hearing loss, and death in severe cases. Treatment is simple and involves lifelong daily doses of biotin.

Endocrine Disorders are caused by decrease or absense of certain hormones. Treatment involves lifelong hormone replacement therapy.

  • Congenital Adrenal Hyperplasia can result in lethargy, vomiting, poor feeding, death, and a female being identified as a male at birth.
  • Congenital Hypothyroidism can result in mental and growth retardation.

Cystic Fibrosis is a progressive lung desease with other organ failures and lung and food digestion problems. Treatment leads to decreased hospitalizations and better growth, development and lung functioning.

Galactosemia is the failure to break down the milk sugar galactose. It can lead to cataracts, liver cirrhosis, mental retardation, and/or death. Treatment is elimination of galactose from the diet usually by substituting soy.

Amino Acid Disorders are caused by the body's failure to breakdown certain proteins. If untreated, the baby could have poor feeding, vomiting, neurological symtoms, mental retardation, coma, and death. Treatment may involve strict dietary management of the amino acid and medication. Florida currently screens for seven amino acis disorders.

Fatty Acid Oxidation Disorders are caused by the body's failure to break down fatty acids to convert to energy. If not diagnosed, fatty acid disorders may result in excessive fat buildup in the liver, heart and kidneys. If left untreated, low blood sugar, vomiting, seizures, lethargy, liver desease, developmental delay, coma, and death could occur. Treatment may include regular food intake, a special low fat diet and medicine. Thechild will need close supervision by a metabolic specialist and dietician. Florida currently screens for ten fatty acid oxidation disorders.

Organic Acidemias are a group of metbolic disorders that lead to a buildup of organic acids in blood and urine. Most of these disorders can be severe and can be present within the first week of life. The baby can develop poor feeding, liver and kidney problems, mental retardation, and possibly death. Treatment involves a strict diet that must be followed for life and medication. Florida currently screens for ten organic disorders.

Hemoglobinopathies are disorders of the red blood cells. The baby can develop life-threatening infections, pneumonia, pain episodes and stroke. Sickle cell anemia causes clogged blood vessels resulting in severe pain and other severe health problems. Family education, immunizations, penicillin and prompt treatment of acute illness improves the outcome for the child. Florida currently screens for three hemoglobinopathies.

A complete listing of disorders screened is available at:
http://www.doh.state.fl.us/CMS/NewbornScreening/nbscreen-disorder.html