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Disorder | Frequency |
---|---|
Phenylketonuria (PKU) | 1:15,000 |
Congenital Hypothyroidism (CH) | 1:4,000 |
Galactosemia | 1:45,000 |
Hemoglobinopathies | 1:400 (African Ancestory) |
Congenital Adrenal Hyperplasia (CAH) | 1:12,000 |
Medium Chain Acyl CO-A Dehydrogenase Deficiency (MCAD) | 1:15,000 |
Other Fatty Acid Oxidation (FAO) Disorders | 1:15,000 |
Maple Syrup Urine Disease (MSUD) | 1:40,000 |
Homocystinuria | 1:70,000 |
Certain other disorders of amino acid metabolism (not including Ornithine Transcarbamylase Deficiency (OTC) 1 | 1:20,000 |
Glutaric Aciduria 1 | 1:100,000 (higher in Amish) |
Other Organic Acid Disorders | 1:20,000 |
Biotinidase Deficiency | 1:60,000 | Severe Combined Immunodeficiency (SCID) | 1:100,000 | Mucopolysaccharidosis Type I (MPS-I) | 1:100,000 | Glycogen Storage Disease Type II (Pompe) | 1:40,000 | X-linked Adrenoleukodystrophy (X-ALD) | 1:50,000 | Spinal Muscular Atrophy (SMA) | 1:10,000 |