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 interest in the history of genetics. The first successful instance of gene therapy in humans was carried out [..]

An inherited disorder characterized by a lack of the alpha-1 antitrypsin protease inhibitor. Alpha-1 antitrypsin deficiency leads to damage of various organs, especially the lung and liver. Symptoms may become apparent at a very early age or anytime later, manifesting as shortness of breath due to emphysema or as liver symptoms such as jaundice, fa [..]

See: Fabry disease.

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 in the membrane of the red cell. In HS the red cells are smaller, rounder, and more fragile than normal. [..]

A low blood level of calcium (hypocalcemia), which can make the nervous system highly irritable, causing spasms of the hands and feet (tetany), muscle cramps, abdominal cramps, overly active reflexes, and so on. Chronic calcium deficiency contributes to poor mineralization of bones, soft bones (osteomalacia) and osteoporosis, and, in children, rick [..]

Lack of the protein ceruloplasmin from the blood and accumulation of iron in the pancreas, liver and brain, causing diabetes and progressive nervous system degeneration with the tremors and gait abnormalities characteristic of Parkinson disease. Ceruloplasmin deficiency is agenetic condition, also known as aceruloplasminemia. Ceruloplasmin normally [..]

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 retardation. The skin changes in the Sjogren-Larsson syndrome are similar to those in [..]

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 retardation. The skin changes in the Sjogren-Larsson syndrome are similar to those in congenital ichthyosi [..]

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 be treated by avoiding galactose in the diet. Galactosemia is inherited as an autosomal recessive trait. [..]

Causes type 1 Gaucher disease, a progressive genetic disease due to an enzyme defect. The enzyme, glucocerebrosidase, is needed to break down the chemical glucocerebroside. The enzyme defect leads to the progressive accumulation of glucocerebroside in the spleen, liver, and lymph nodes. Gaucher disease is the most common genetic disease in Ashkenaz [..]

Deficiency of G6PD is the commonest disease-causing enzyme defect in humans affecting an estimated 400 million people. The G6PD gene is on the X chromosome. Males with the enzyme deficiency develop anemia due to breakup of their red blood cells when they are exposed to oxidant drugs such as the antimalarial primaquine, the sulfonamide antibiotics o [..]

See: Tay-Sachs disease.

An inadequate amount of iron, the most common known form of nutritional disorder in the world. Iron is necessary to make hemoglobin, the molecule in red blood cells that transports oxygen. Iron deficiency results in anemia. The prevalence of iron deficiency is highest among young children and women of childbearing age (particularly pregnant women). [..]

Lack of the enzyme lactase in the small intestine. Lactase is needed to digest lactose, a sugar found in milk and most other dairy products and also used as an ingredient in other foods. Although most people are born with the ability to make adequate amounts of lactase, the production of lactase normally decreases with age, and there are significan [..]

Acute fatty liver of pregnancy (AFLP) has been found to be associated in some cases with an abnormality of fatty-acid metabolism. This abnormality is a deficiency of the enzyme long-chain-3-hydroxyacyl-CoA dehydrogenease (LCHAD). The mother (and father) have 50% of normal LCHAD activity and the fetus has no LCHAD activity. The metabolic disease in [..]

Lack of magnesium, which can occur because of inadequate intake or impaired intestinal absorption of magnesium. Low magnesium levels are often associated with low calcium and potassium levels because these nutrients interact with each other. Magnesium deficiency causes increased irritability of the nervous system, as evidenced by spasms of the hand [..]

See: Pellagra.

See Phenylalanine hydroxylase deficiency.

Protein C is a protein in plasma that enters into the cascade of biochemical events leading to the formation of a clot. Deficiency of protein C results in thrombotic (clotting) disease.

Lack of the essential mineral selenium, which can cause Keshan disease, a fatal form of disease of the heart muscle (cardiomyopathy) that was first observed in Keshan province in China and has since been found elsewhere. Treatment involves ensuring intake of the recommended dietary allowance of selenium, currently 70 mg per day for men and 55 mg pe [..]

Also called Niemann-Pick disease, this is a disorder of the metabolism of a lipid (fat) called sphingomyelin that usually causes the progressive development of enlargement of the liver and spleen (hepatosplenomegaly), "swollen glands" (lymphadenopathy), anemia and mental and physical deterioration. Niemann-Pick disease is hereditary and f [..]

Underactivity of a liver enzyme that is essential to the disposal of bilirubin (the chemical that results from the normal breakdown of hemoglobin from red blood cells).The deficiency of this enzyme (UDP-glucuronosyltransferase) results in a condition called Gilbert's disease in which there are mild elevations of bilirubin pigment in the blood. [..]

See: UROD deficiency.

A lack of vitamin K resulting in an increase in the clotting time of the blood, impaired clotting and a tendency to excessive bleeding. Blood clotting is delayed or prevented because vitamin K is unavailable to act as an essential element (a cofactor) in the body's production of four necessary coagulation (clotting) factors (especially prothro [..]

Acute fatty liver of pregnancy (AFLP) has been found to be associated in some cases with an abnormality of fatty-acid metabolism. This abnormality is a deficiency of the enzyme long-chain-3-hydroxyacyl-CoA dehydrogenase (LCHAD). The mother (and father) have 50% of normal LCHAD activity and the fetus has no LCHAD activity. The metabolic disease in t [..]

According to the National Academy of Sciences, the Recommended Dietary Allowance of zinc is 8 milligrams per day for women age 19+ years and 11 milligrams per day for men age 19+ years. Food sources of zinc include meat including liver, eggs, seafood, nuts and cereal.Deficiency of zinc is associated with short stature, anemia, increased pigmentatio [..]

In medicine, a shortage of a substance (such as a vitamin or mineral) needed by the body.

The amount by which a project's cash flow is not adequate to meet debt service.

Déficit

Less than what is normally required or needed of something

1630s, from deficience (mid-15c.) + -cy; or from Late Latin deficientia, from deficientem (see deficient).

The difference between the mortgage meant to be paid and the amount at foreclosure.

All or part of an item that does not comply with its governing requirements or specification. [D02612]

1) In tax, a difference found by the IRS between a taxpayers reported tax liability and the amount of tax the IRS says that the taxpayer should have reported. 2) In lending, the remaining balance of t [..]

lack: the state of needing something that is absent or unavailable; "there is a serious lack of insight into the problem"; "water is the critical deficiency in d [..]

n. Lack or insufficiency.

Definition The difference between the tax assessed by the IRS and the amount reported on a return.

A lack or shortage in something.

deficiency (pop)

pl: -cies : an amount that is lacking or inadequate: as a : the difference between the amount of tax owed and the amount of tax paid b : the difference between the amount owed under a security ...

The amount of taxes owed after paying too little, assessed during an audit.

A lack of a necessary factor in, for example, the diet or the environment which results in harm to the growth of an organism.

A lack or shortage of something. In the body, this may be a vitamin or mineral.

a lack of something necessary for one's health

The amount by which the project cash flow is not adequate to service the debt.

Portion of a loan which remains outstanding after pledged property has been liquidated (converted to cash) and applied to the outstanding balance.

(n) the state of needing something that is absent or unavailable(n) lack of an adequate quantity or number

A lack of credit in a required course or graduation requirement.

deficiency means a shortage or lack of

Deficiency in a comprehensive plan or development regulation refers to the absence of required or potentially desirable contents of a comprehensive plan or development regulation.

A Sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in Tissues. It results from the accumulation of Ceramides in various Tissues due to an inherit [..]

Deficiency of the Protease Inhibitor alpha 1-Antitrypsin that manifests primarily as Pulmonary Emphysema and Liver Cirrhosis.

An absence or reduced level of Antithrombin III leading to an increased Risk for Thrombosis.

A rare autosomal recessive disorder of the Urea cycle. It is caused by a deficiency of the hepatic enzyme Arginase. Arginine is elevated in the Blood and cerebrospinal fluid, and periodic Hyperammonem [..]

Rare autosomal recessive disorder of the Urea cycle which leads to the accumulation of Argininosuccinic Acid in Body Fluids and severe Hyperammonemia. Clinical features of the neonatal onset of the di [..]

A rare neurodegenerative condition of infancy or childhood characterized by White matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an a [..]

A group of Diseases related to a deficiency of the enzyme Argininosuccinate Synthase which causes an elevation of Serum levels of CITRULLINE. In Neonates, clinical manifestations include Lethargy, Hyp [..]

An inborn error of Metabolism marked by a defect in the lysosomal isoform of beta-Mannosidase that results in lysosomal accumulation of Mannose-rich intermediate metabolites containing 1,4-beta linkag [..]

Autoimmune Lymphoproliferative Syndrome due to Mutations in Caspase 8 Gene.

An X-linked inherited Metabolic Disease caused by a deficiency of lysosomal alpha-Galactosidase A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other Glycosphingolip [..]

A condition produced by a deficiency of Choline in Animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditi [..]

An autosomal dominant Porphyria that is due to a deficiency of Coproporphyrinogen Oxidase in the LIVER, the sixth enzyme in the 8-enzyme Biosynthetic Pathway of Heme. Clinical features include both ne [..]

A Urea Cycle Disorder manifesting in infancy as Lethargy, Emesis, Seizures, alterations of Muscle tone, abnormal Eye Movements, and an elevation of Serum Ammonia. The disorder is caused by a reduction [..]

A Disease that results from a Congenital Defect in Electron Transport Complex IV. Defects in Electron Transport Complex IV can be caused by Mutations in the SURF1, SCO2, COX10, or SCO1 Genes. Electron [..]

An autosomal recessive disorder affecting Dihydropyrimidine Dehydrogenase and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient Patients. Even a partial [..]

A deficiency of Blood Coagulation Factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first Patient studied in detail, not the holy day.) Historical and clinical f [..]

An autosomal recessive characteristic or a coagulation disorder acquired in Association with Vitamin K Deficiency. Factor VII is a Vitamin K dependent Glycoprotein essential to the extrinsic pathway o [..]

A hereditary deficiency of Blood Coagulation Factor XI (also known as Plasma Thromboplastin Antecedent or PTA or antihemophilic factor C) resulting in a systemic Blood-clotting defect called Hemophili [..]

A deficiency of Blood Coagulation Factor XIII or Fibrin Stabilizing Factor (FSF) that prevents Blood clot formation and results in a clinical Hemorrhagic Diathesis.

A deficiency or absence of Fibrinogen in the Blood.

A nutritional condition produced by a deficiency of Folic Acid in the Diet. Many Plant and Animal Tissues contain Folic Acid, abundant in green leafy vegetables, Yeast, liver, and Mushrooms but destro [..]

An autosomal recessive Fructose Metabolism disorder due to deficient Fructose-1-phosphate Aldolase (EC 2.1.2.13) activity, resulting in accumulation of Fructose-1-phosphate. The accumulated Fructose-1 [..]

An autosomal recessive Fructose Metabolism disorder due to absent or deficient Fructose-1,6-Diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors ( [..]

An autosomal recessively inherited Glycogen Storage Disease caused by Glucan 1,4-alpha-Glucosidase deficiency. Large amounts of GLYCOGEN accumulate in the Lysosomes of Skeletal Muscle (Muscle, Skeleta [..]

An autosomal recessive metabolic disorder caused by a deficiency of Galactosylceramidase leading to intralysosomal accumulation of Galactolipids such as Galactosylceramides and Psychosine. It is chara [..]

This type afflicts both Children and Adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry.

An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen Branching Enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYC [..]

An autosomal recessive disorder caused by a deficiency of Acid beta-Glucosidase (Glucosylceramidase) leading to intralysosomal accumulation of glycosylceramide mainly in Cells of the Mononuclear Phago [..]

An autosomal recessive Disease in which Gene Expression of Glucose-6-Phosphatase is absent, resulting in Hypoglycemia due to lack of Glucose production. Accumulation of glycogen in liver and Kidney le [..]

An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-Glucosidase (one part of the Glycogen Debranching Enzyme System). The clinical course of the Disease is similar to th [..]

A Disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of Glucose-6-Phosphate Dehydrogenase activity in Erythrocytes, leading to Hemolytic Anemia.

Mucopolysaccharidosis characterized by excessive dermatan and heparan Sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.

An absence or reduced level of Blood Coagulation Factor XII. It normally occurs in the absence of Patient or Family history of Hemorrhagic Disorders and is marked by prolonged clotting Time.

A progressive Neurodegenerative Disorder that begins with Muscle Weakness, then progresses to Startle Reaction, retardation and Seizures. It is characterized by the accumulation of G(M2) Ganglioside i [..]

A Dysgammaglobulinemia characterized by a deficiency of Immunoglobulin A.

A Dysgammaglobulinemia characterized by a deficiency of Immunoglobulin G.

A deficiency of Blood Coagulation Factor V (known as Proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's Disease or parahemophilia. It v [..]

An inherited condition due to a deficiency of either Lipoprotein Lipase or Apolipoprotein C-II (a Lipase-activating protein). The lack of Lipase activities results in inability to remove Chylomicrons [..]

An inborn error of Metabolism marked by a defect in the lysosomal isoform of alpha-Mannosidase activity that results in lysosomal accumulation of Mannose-rich intermediate metabolites. Virtually all P [..]

A nutritional condition produced by a deficiency of Magnesium in the Diet, characterized by Anorexia, Nausea, Vomiting, Lethargy, and weakness. Symptoms are Paresthesias, Muscle Cramps, irritability, [..]

An autosomal recessive disorder of Lipid Metabolism. It is caused by Mutation of the microsomal triglyceride Transfer protein that catalyzes the transport of Lipids (TRIGLYCERIDES; Cholesterol Esters; [..]

A deficiency in the activities of Biotin-dependent Enzymes (Propionyl-CoA Carboxylase, methylcrotonyl-CoA carboxylase, and Pyruvate Carboxylase) due to one of two defects in Biotin Metabolism. The neo [..]

The late onset form of Multiple Carboxylase Deficiency (deficiency of the activities of Biotin-dependent Enzymes Propionyl-CoA Carboxylase, methylcrotonyl-CoA carboxylase, and Pyruvate Carboxylase) du [..]

The neonatal form of Multiple Carboxylase Deficiency that is caused by a defect or deficiency in holocarboxylase Synthetase. HLCS is the enzyme that covalently links Biotin to the Biotin dependent car [..]

Mucopolysaccharidosis with excessive Chondroitin Sulfate B in urine, characterized by Dwarfism and Deafness. It is caused by a deficiency of N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B).

An inherited Urea Cycle Disorder associated with deficiency of the enzyme Ornithine Carbamoyltransferase, transmitted as an X-linked trait and featuring elevations of Amino Acids and Ammonia in the Se [..]

An autosomal recessive Glycogen Storage Disease in which there is deficient expression of 6-phosphofructose 1-Kinase in Muscle (Phosphofructokinase-1, Muscle Type) resulting in abnormal deposition of [..]

A condition due to decreased dietary intake of Potassium, as in Starvation or failure to administer in intravenous Solutions, or to gastrointestinal loss in Diarrhea, chronic laxative abuse, Vomiting, [..]

Rare autosomal recessive disorder of Metabolism due to Mutations in the prolidase Gene. It is characterized by recurrent Lower Extremity Skin Ulcers, recurrent Infections, and Facies, often with Intel [..]

Autosomal recessive metabolic disorder caused by Mutations in Propionyl-CoA Carboxylase Genes that result in dysfunction of branch chain Amino Acids and of the Metabolism of certain Fatty Acids. Neona [..]

A nutritional condition produced by a deficiency of Proteins in the Diet, characterized by adaptive enzyme changes in the liver, increase in amino acid Synthetases, and diminution of Urea formation, t [..]

An absence or deficiency in Protein C which leads to impaired Regulation of Blood Coagulation. It is associated with an increased Risk of severe or premature Thrombosis. (Stedman's Med. Dict., 26 [..]

An autosomal dominant disorder showing decreased levels of Plasma Protein S Antigen or activity, associated with Venous Thrombosis and Pulmonary Embolism. Protein S is a Vitamin K-dependent Plasma pro [..]

Disorders caused by imbalances in the protein Homeostasis network - synthesis, folding, and transport of Proteins; Post-Translational Modifications; and degradation or clearance of misfolded Proteins.

Absence or reduced levels of Prothrombin in the Blood.

Glycogenosis due to Muscle phosphorylase deficiency. Characterized by painful Cramps following sustained Exercise.

Deficiency of Pyridoxine, one of the Vitamin B 6 compounds. Although Pyridoxine and Vitamin B 6 are still frequently used as synonyms, especially by medical Researchers, this practice is erroneous and [..]

An autosomal recessive metabolic disorder caused by absent or decreased Pyruvate Carboxylase activity, the enzyme that regulates Gluconeogenesis, Lipogenesis, and Neurotransmitter synthesis. Clinical [..]

An inherited metabolic disorder caused by deficient enzyme activity in the Pyruvate Dehydrogenase Complex, resulting in deficiency of Acetyl CoA and reduced synthesis of Acetylcholine. Two clinical Fo [..]

A dietary deficiency of Riboflavin causing a Syndrome chiefly marked by Cheilitis, angular Stomatitis, Glossitis associated with a purplish red or magenta-colored tongue that may show fissures, cornea [..]

The classic infantile form of Niemann-Pick Disease, caused by Mutation in Sphingomyelin Phosphodiesterase. It is characterized by accumulation of Sphingomyelins in the Cells of the Mononuclear Phagocy [..]

Disorder characterized by a decrease or lack of Platelet dense bodies in which the releasable pool of Adenine Nucleotides and 5HT are normally stored.

Blood Coagulation Disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterized by defective activity in both the intrinsic and extrinsic pathways, impaire [..]

A nutritional condition produced by a deficiency of Thiamine in the Diet, characterized by Anorexia, irritability, and Weight Loss. Later, Patients experience weakness, Peripheral Neuropathy, Headache [..]

A nutritional condition produced by a deficiency of Vitamin A in the Diet, characterized by Night Blindness and other ocular manifestations such as dryness of the Conjunctiva and later of the Cornea ( [..]

A condition due to deficiency in any member of the Vitamin B Complex. These B Vitamins are Water-soluble and must be obtained from the Diet because they are easily lost in the urine. Unlike the lipid- [..]

A nutritional condition produced by a deficiency of Vitamin B 12 in the Diet, characterized by Megaloblastic Anemia. Since Vitamin B 12 is not present in Plants, Humans have obtained their supply from [..]

A nutritional condition produced by a deficiency of Vitamin B 6 in the Diet, characterized by Dermatitis, Glossitis, cheilosis, and Stomatitis. Marked deficiency causes irritability, weakness, Depress [..]

A condition due to a dietary deficiency of Ascorbic Acid (Vitamin C), characterized by malaise, Lethargy, and weakness. As the Disease progresses, joints, Muscles, and Subcutaneous Tissues may become [..]

A nutritional condition produced by a deficiency of Vitamin D in the Diet, insufficient production of Vitamin D in the Skin, inadequate Absorption of Vitamin D from the Diet, or abnormal conversion of [..]

A nutritional condition produced by a deficiency of Vitamin E in the Diet, characterized by posterior column and Spinocerebellar Tract abnormalities, areflexia, Ophthalmoplegia, and disturbances of Ga [..]

A nutritional condition produced by a deficiency of Vitamin K in the Diet, characterized by an increased tendency to Hemorrhage (Hemorrhagic Disorders). Such Bleeding episodes may be particularly seve [..]

In the Yin-Yang system of Philosophy and Medicine, a lack of vital energy (called yangxu in Chinese). It manifests itself in various systemic and organic Diseases. (The Pinyin Chinese-English Dictiona [..]

In the Yin-Yang system of Philosophy and Medicine, an insufficiency of Body Fluid (called yinxu), manifesting often as irritability, Thirst, Constipation, etc. (The Pinyin Chinese-English Dictionary, [..]

A lack of something that is required for normal body function.

In medicine, a shortage of a substance (such as a vitamin or mineral) needed by the body.

Something lacking or missing. A person's body that cannot fight germs doesn't have a strong immune system. In other words, they have a deficiency-- not enough germ fighters.

In medicine, a shortage of a substance needed by the body. (Definition from: National Cancer Institute dictionary

The absence of part of the normal genome or chromosome set. See deletion.

An unauthorized deviation from acceptable procedures or practices, or a defect in an item.

(uncountable) Inadequacy or incompleteness. * year=1963| (countable) An insufficiency, especially of something essential to health. * date=2013-08-31|volume=408|issue=8851|magazine={{w|The Econo [..]

The amount by which a project's cash flow is not adequate to meet debt service.

An autosomal recessively inherited disorder caused by Mutation of Lecithin Cholesterol Acyltransferase that facilitates the Esterification of Lipoprotein Cholesterol and subsequent removal from periph [..]