- inherited deficiency
- наследственный дефицит
English-Russian small dictionary of medicine. Г.Ю. Бельман, А.Е. Бойков.. 2015.
inherited deficiency
Смотреть что такое "inherited deficiency" в других словарях:
Deficiency, hex-A — Deficiency of the enzyme hexosaminidase A, the cause of Tay Sachs disease. Hex A deficiency results in failure to process a lipid (a fat) which accumulates and is deposited in the brain and other tissues, to their detriment. The lipid that is… … Medical dictionary
Deficiency, hexosaminidase A — Deficiency of the enzyme hexosaminidase A, the cause of Tay Sachs disease. Hex A deficiency results in failure to process a lipid (a fat) which accumulates and is deposited in the brain and other tissues, to their detriment. The lipid that is… … Medical dictionary
Deficiency, FAO — Also known as the Sjogren Larsson syndrome, this is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish like skin), spastic paraplegia (spasticity of the legs) and mental… … Medical dictionary
Deficiency, fatty alcohol: NAD+ oxidoreductase — Also known as the Sjogren Larsson syndrome, this is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish like skin), spastic paraplegia (spasticity of the legs) and mental… … Medical dictionary
Deficiency, fatty aldehyde dehydrogenase — Also known as the Sjogren Larsson syndrome, this is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish like skin), spastic paraplegia (spasticity of the legs) and mental… … Medical dictionary
Deficiency, FALDH — Also known as the Sjogren Larsson syndrome, this is a genetic (inherited) disease usually characterized by a triad of clinical findings consisting of ichthyosis (thickened fish like skin), spastic paraplegia (spasticity of the legs) and mental… … Medical dictionary
Deficiency, adenosine deaminase (ADA) — A genetic (inherited) condition that results in a immune deficiency disorder called severe combined immunodeficiency disease. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules. ADA deficiency is of special… … Medical dictionary
Deficiency, GALT — Lack of the enzyme called GALT (galactose 1 phosphate uridyl transferase) which causes the genetic metabolic disease galactosemia, one of the diseases in many newborn screening panels. The disease can be fatal, if undetected. If detected, it can… … Medical dictionary
Deficiency, ankyrin — Known also as hereditary spherocytosis (HS), this is a genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen), due to deficiency of ankyrin, a protein… … Medical dictionary
deficiency — An insufficient quantity of some substance (as in dietary d. or hemoglobin d. in marrow aplasia); organization (as in mental d.); activity (as in enzyme d. or reduced oxygen carrying capacity of the blood), etc., of which the amount present is of … Medical dictionary
inherited disease — noun a disease or disorder that is inherited genetically • Syn: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑inherited disorder, ↑hereditary disease, ↑ … Useful english dictionary
