Galactosemia definition

Galactosemia means an inherited disease caused by the body's failure to break down galactose due to a defective enzyme function, which if not treated early in life may cause developmental disability or death.

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Galactosemia means a deficiency of enzymes that help the body convert the simple sugar galactose into glucose resulting in a buildup of galactose and galactose-1-PO4 in the blood. If undetected and untreated, accumulated galactose-1- PO4 may cause significant tissue and organ damage often leading to sepsis and death.

Galactosemia means an inherited error in the metabolism of galactose.

Examples of Galactosemia in a sentence

• AT-007 is currently being studied in a Phase 3 clinical outcomes trial (ACTION-Galactosemia Kids) in children ages 2-17 with Galactosemia, as well as a long-term open-label study in adults with Galactosemia.

• My assignment for the past two PGC Conferences has been to find a speaker to present information on the neurological issues that about 20% of children and young adults with Galactosemia face.

• This partnership brings us one step closer to making AT-007 available to patients with Galactosemia and SORD Deficiency – both debilitating rare diseases with no other therapies currently available – and strengthens Applied Therapeutics’ capital position.” ​ “We are pleased to partner with Applied Therapeutics,” said ▇▇▇▇▇▇▇ ▇▇-▇▇▇▇▇▇, Chief Corporate Development Officer of Advanz.

More Definitions of Galactosemia

Galactosemia means a deficiency of enzymes that help the body convert the simple sugar galactose into glucose resulting in a buildup of galactose and galactose-1-PO4 in the

Galactosemia. “Classic galactosemia” means a congenital metabolic disorder characterized by abnormal galactose metabolism due to defective galactose-1-phosphate uridyltranferase activity which causes mental retardation or death if not treated early in life.

Galactosemia means an inherited disease caused by the body's failure to break down galactose due to a defective enzyme function, which if not treated early in life may cause mental retardation or death.

Galactosemia means a congenital metabolic disorder characterized by abnormal galactose metabolism which causes mental retardation or death of not treated early in life.

Galactosemia means the genetic metabolic disorder in humans resulting in deficiencies in enzymes in the Le Loir pathway of galactose metabolism, resulting in the inability to convert galactose to glucose, known as of the Effective Date as “galactosemia.”

Galactosemia means a recessively inherited genetic disorder in which the individual is completely or partially incapable of normal metabolism of galactose due to a deficiency of the galactose-1-phosphate uridyltransferase enzyme.

Galactosemia means a deficiency of enzymes that help the body convert the simple sugar galac- tose into glucose resulting in a buildup of galactose and galactose-1-PO4 in the blood. If undetected and untreated,