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enEnglish
Choline Deficiency definition: 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 conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984)
choline deficiency definition: state in which choline is absent or in diminished amount relative to the normal requirement of an organism or a biologic system.
Deficit definition: A lack or deficiency.
Glycogen Storage Disease Type III definition: 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 that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups Type IIIa and Type IIIb being the most prevalent.
glycogen storage disease type III definition: autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase; clinical course is similar to that of glycogen storage disease type I, but milder; massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age; levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes.
Glycogen Storage Disease Type IV definition: 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 GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
glycogen storage disease type IV definition: autosomal recessive metabolic disorder due to a deficiency in expression of branching enzyme (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal glycogen with long outer branches; clinical features are muscle hypotonia and cirrhosis; death from liver disease usually occurs before age 2.
Hemophilia A definition: The classic hemophilia resulting from a deficiency of factor VIII. It is an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
hemophilia A definition: classic hemophilia resulting from a deficiency of factor VIII; an inherited disorder of blood coagulation characterized by a permanent tendency to hemorrhage.
Hemophilia A definition: An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an x-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births.
Maple Syrup Urine Disease definition: An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)
maple syrup urine disease definition: autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids; metabolites accumulate in body fluids and render a "maple syrup" odor; divided into classic, intermediate, intermittent, and thiamine responsive subtypes; classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia; the intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting.
Mucopolysaccharidosis VI definition: 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).
mucopolysaccharidosis type VI definition: mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness; caused by a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase).
mucopolysaccharidosis (MPS) VI definition: An inborn error of metabolism characterized by arylsulfatase B (EC 3.1.6.12) deficiency preventing degradation of mucopolysaccharides with their accumulation in soft tissues causing obstructions and compression of the blood vessels, trachea, and peripheral nerves, and disruption of normal bone development, associated with the phenotype similar to that in MPS I but generally normal intelligence and mental retardation reported in a few isolated cases. Three basic types are recognized: Maroteaux-Lamy syndrome type B Synonym: mucopolysaccharidosis (MPS) VI B A mild type marked by usually normal childhood until about 6 years of age when short stature, Legg-Perthes-like changes of the hips, aortic stenosis, spinal deformities, corneal clouding, survival into adulthood. The intermediate type has the phenotype similar to that in mucolipidosis III with coarse Hurler-like facies, stiff joints with decreased mobility, and short stature. The severe type (sometimes designated Maroteaux-Lamy syndrome type A Synonym: mucopolysaccharidosis (MPS) VI A A severe typs usually associated with onset of symptoms in early childhood, a rapidly progressive course, and death in adolescence. Short stature, coarse facies, hyperextended head, corneal clouding, defective hearing, heart abnormalities, and musculoskeletal anomalies are the main characteristics.
Androgen-Insensitivity Syndrome definition: A familial form of PSEUDOHERMAPHRODITISM transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.
Coproporphyria, Hereditary definition: 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 neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.
Citrullinemia definition: 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, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
arginosuccinate synthetase deficiency definition: autosomal recessive aminoacidopathy characterized by marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; clinical findings include mental retardation and neurologic abnormalities.
Canavan Disease definition: 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 accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Biotinidase Deficiency definition: 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) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
alpha 1 antitrypsin deficiency definition: autosomal recessive trait leading to destruction of lung tissue by neutrophil elastase and eventual emphysema; second only to cystic fibrosis as most common lethal genetic disorder among Caucasians of northern European ancestry.
alpha 1-Antitrypsin Deficiency definition: Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN, leading primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. (From Scriver, Beaudet, Sly, & Valle, The Metabolic and Molecular Bases of Inherited Disease, 7th ed, p4125)
Aspartylglucosaminuria definition: A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES.
aspartylglycosaminuria definition: An inborn error of metabolism caused by deficient activity of the enzyme aspartylglucosaminidase. Clinical manifestations consist of psychomotor retardation, coarse facies, hepatosplenomegaly, ventral hernia, and skeletal abnormalities.
Cytochrome-c Oxidase Deficiency definition: 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 TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)
Acatalasia definition: A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.
Argininosuccinic Aciduria definition: 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 disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
Hyperargininemia definition: 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 HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
argininemia definition: rare autosomal recessive disorder of the urea cycle; caused by a deficiency of the hepatic enzyme type I arginase; arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia may occur; disease onset is usually in infancy or early childhood; clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis.
complement deficiency definition: rare disease where complement protein(s) are absent or in diminished amount relative to the normal requirement of an organism; associated with autoimmune disease or increased susceptibility to infections, problems encountered depend on which pathway is affected.
carbamoyl phosphate synthetase deficiency definition: genetic aminoacidopathy due to a deficiency of carbamoyl phosphate synthase (ammonia); characteristic symptoms include pronounced hyperammonemia without orotic aciduria, protein intolerance, and neurologic disorders.
Carbamoyl-Phosphate Synthase I Deficiency Disease definition: 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 in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
deficiency definition: Used with endogenous and exogenous substances which are absent or in diminished amount relative to the normal requirement of an organism or a biologic system.
Autoimmune Lymphoproliferative Syndrome Type 2B definition: Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene.
deficiency definition: Déficience, défaut, insuffisance, manque, privation, vice.
 
 
deGerman
Defizit definition: [1] Verlust, Einbuße
Defekt definition: [1] fehlerhafte Stelle, Funktionsfehler
 
frFrench
vice definition: Défaut, imperfection grave qui rend une personne ou une chose plus ou moins impropre à sa destination.
vice definition: Disposition habituelle au mal, chez l'homme
vice definition: Disposition habituelle à faire un certain mal particulier.
vice definition: La débauche, le libertinage.
vice definition: Personne vicieuse.
carence definition: Absence totale ou presque totale d’effets mobiliers dans une succession ou de meubles dans une saisie d’huissier.
carence definition: Insolvabilité d’un débiteur.
carence definition: Manque de quelque chose qui est nécessaire (par exemple, dans l’alimentation).
insuffisance definition: État de ce qui est insuffisant.
insuffisance definition: Infériorité, inaptitude, de certaines personnes pour certaines choses.
insuffisance definition: Dysfonctionnement.
manque definition: Absence, défaut, fait de manquer.
privation definition: Perte, absence, manque d’un bien, d’un avantage qu’on avait, ou qu’on devait, qu’on pouvait avoir.
privation definition: Action de se priver volontairement, de s’abstenir de quelque chose dont on pourrait jouir.
déficience definition: Défaillance intellectuelle ou physique.