Galactosemia
GALACTOSEMIA What is Galactosemia? Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize the sugargalactose, which is found in milk and dairy products. There are three types of galactosemia:Classic galactosemia, which is the most severe form; Galactokinase deficiency, which is a milder form; and UDP-galactose 4-epimerase deficiency, which is the mildest […]
Glutaric Acidemia Type II Disorder
Other Names Glutaric Acidemia II (GA2, GA II) Glutaric Aciduria Type 2 Multiple Acyl-CoA Dehydrogenase Deficiency (MAD, MADD) Electron Transfer Flavoprotein Dehydrogenase Deficiency (ETFA, ETFB, ETFDH) Diagnosis Coding E71.313, Glutaric Aciduria type II Disorder Category A fatty acid oxidation disorder Frequency Glutaric Acidemia type II is a very rare disorder; its precise […]
Methyl Malonic Acidemia (MMA)
Incidence Methylmalonic Acidemia (MMA) is estimated to affect one out of every 50,000 to 100,000 babies born in the United States. MMA is caused by cobalamin disorders A and B is only one form of Methylmalonic Acidemia. Incidence by ethnicity It also creates a high number of false-positive results at a ratio of 5 infants […]