Homocystinuria definition

Homocystinuria means an inherited error in the metabolism of methionine.

Homocystinuria means a congenital disorder characterized by abnormal methionine and homocysteine metabolism due to defective cystathione-ß-synthase activity.

Homocystinuria means a congenital disorder character- ized by abnormal methionine and homocysteine metabo- lism due to defective cystathione-ß-synthase activity.

Examples of Homocystinuria in a sentence

• Navamedic can offer a complete range of products for over 8 different metabolic disorders (for example Phenylketonuria, Tyrosinemia, Maple Sirup Urine Disease, Homocystinuria, Methylmalonic Acidemia (MMA), Propionic Acidemia (PA), Glutaric Aciduria Type 1 (GA1).

• The formulas must be approved by the Commissioner of Health for the medically necessary treatment of an inborn error of metabolism (such as but not limited to Homocystinuria, Methylmalonic acidemia, Maple Syrup Urine Disease, Phenylketonuria, Propionic academia, and Tyrosinemia).

• Potential Pharmacological Chaperones for Cystathionine Beta- Synthase-Deficient Homocystinuria.

• If a Division member has a congenital metabolic disorder identified through the Bloodspot Newborn Screening Panel (such as Phenylketonuria, Homocystinuria, Maple Syrup Urine Disease, or Galactosemia), refer to AMPM Policy 310-GG.

• Homocystinuria (HCY) means a disorder of amino acid metabolism in which an enzyme defect results in increased methionine and homocystine.

More Definitions of Homocystinuria

Homocystinuria means a congenital disorder characterized by abnormal methionine and homocysteine metabo- lism due to defective cystathione-ß-synthase activity.

Homocystinuria means deficiency of enzymes nec- essary to break down or recycle the amino acid homocysteine resulting in a buildup of methionine and homocysteine. If undetected and untreated may cause thromboembolism, men- tal and physical disabilities.

Homocystinuria means a congenital metabolic disorder characterized by abnormal methionine and homocysteine metabolism which causes mental retardation if not treated early in life due to defective cystathione-ß-synthase activ- ity.

Homocystinuria means a congenital metabolic disorder characterized by abnormal methionine and homocysteine

Homocystinuria means a congenital metabolic disorder characterized by abnormal methionine and homocysteine metabolism due to defective cystathione-ß-synthase activity which causes mental retardation if not treated early in life.

Homocystinuria means a congenital metabolic disorder characterized by abnormal methionine metabolism which causes mental retardation if not treated early in life.

Homocystinuria means deficiency of enzymes necessary to break down or recycle the amino acid homocys- teine resulting in a buildup of methionine and homocysteine. If undetected and untreated may cause thromboembolism, mental and physical disabilities.