Alpha-1 Antitrypsin Deficiency
It’s estimated that 120,000 Americans have Alpha-1 Antitrypsin Deficiency and only 6% have been diagnosed.
https://www.alphanet.org/what-is-alpha-1/
Biliary Atresia
1 in 15,000-20,000 infants worldwide are diagnosed with Biliary Atresia and are missing or have blocked or scarred bile ducts.
https://www.cincinnatichildrens.org/health/b/biliary
Galactosemia
Clinical Variant Galactosemia occurs most often in African Americans and Native Africans in South Africa who have the GALT-gene mutation.
Galactosemia - NORD (National Organization for Rare Disorders)Classical Galactosemia is diagnosed in a range of 1 in 16,000-48,000 births globally through newborn screening.
Galactosemia - NORD (National Organization for Rare Disorders)
Hepatorenal Syndrome (HRS)
Hepatorenal syndrome is estimated to occur in 8-10% of individuals with ascites (abdominal swelling) and cirrhosis globally.
Hepatorenal Syndrome - NORD (National Organization for Rare Disorders)
Sickle Cell Disease
1 in 16,300 Hispanic Americans are estimated to have Sickle Cell Disease.
https://www.cdc.gov/ncbddd/sicklecell/data.htm
Urea Cycle Disorder (UCD)
1 in 30,000 newborns are affected by urea cycle disorder worldwide.
Urea Cycle Disorder (UCD) (cincinnatichildrens.org)
Mucopolysaccharidosis
Approximately 1 in 25,000 babies born in the United States will have some form of the mucopolysaccharidoses.
Mucopolysaccharidoses Fact Sheet | National Institute of Neurological Disorders and Stroke (nih.gov)Symptoms of Mucopolysaccharidosis type 2 typically appear between the ages of 2 and 4.
Mucopolysaccharidosis Type II - NORD (National Organization for Rare Disorders) (rarediseases.org)
Progessive-Familial intrahepatic cholestasis (PFIC)
PFIC affects 1 in 50,000-100,000 births worldwide.
https://childliverdisease.org/liver-information/childhood-liver-conditions/progressive-familial-intrahepatic-cholestasis/About 75% of PFIC type 2 patients develop fibrosis by age 2.
https://www.cincinnatichildrens.org/health/p/pfic
Zellweger Syndrome
Zellweger Syndrome occurs in 1 in 50,000 people in North America, but 1 in 500,000 in Japan.
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=912