Molybdenum deficiency has been produced in goats when on a diet with a molybdenum content of only 24. Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction encephalopathy that worsens over time. Factor xi fxi deficiency, also called hemophilia c, plasma thromboplastin antecedent deficiency and rosenthal syndrome, was first recognized in 1953 in patients who experienced severe bleeding after dental extractions. Pdf on sep 5, 2017, dinesha maduri vidanapathirana and others published a case of molybdenum cofactor deficiency find, read and cite. The resultant accumulation of sulfite, taurine, ssulfocysteine and thiosulfate contributes to the severe neurological impairment. Molybdenum cofactor deficiency is an extremely rare and fatal metabolic disorder that should be considered in the differential diagnosis of.
The prognosis of factor ii deficiency both inherited and noninherited type is generally good with appropriate treatment. Pubmed is a searchable database of medical literature and lists journal articles that discuss molybdenum cofactor deficiency. Antithrombin, heparin cofactor ii, and nexin i are all members of the serine protease inhibitor serpin superfamily. Oct 30, 2019 factor xi fxi deficiency is an autosomal disorder that may be associated with bleeding. Inherited factor xi deficiency can be categorized as severe or partial based on the factor xi activity. It is much more common than molybdenum cofactor deficiency but is not a lethal defect. Molybdenum cofactor deficiency mocod is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable. In sulphite oxidase deficiency, there is an accumulation of all sulphites which cannot turn into sulphates in order to be eliminated by the urine. Usually this leads to death within months of birth, due to the lack of active sulfite oxidase. Factor x deficiency can also be due to another condition or use of certain medicines. Ideal sources for wikipedia s health content are defined in the guideline wikipedia.
The incidence of fx deficiency is estimated at 1 in 500,000 to 1 in a million. Molybdenum cofactor deficiency article about molybdenum cofactor deficiency by. Severe deficiency factor xi activity molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. Boltonmaggs summary factor xi fxi deficiency has a more variable bleeding tendency than hemophilia a or b. Factor v and viii combined deficiency rare bleeding disorders. Molybdenum cofactor deficiency genetic and rare diseases. Molybdenum cofactor deficiency genetics home reference nih. There was no evidence of mitochondrial disorder on musclebiopsy. Biology the absence of a gene or a region of a chromosome normally present explanation of molybdenum cofactor deficiency. Molybdenum cofactor deficiency mocd is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4. This is a bleeding disorder caused by deficiency of clotting factor viii. The prognosis of noninherited f ii deficiency may depend on the prognosis of the underlying disorder such as advanced liver disease additional and relevant useful information for factor ii deficiency. Factor ii deficiency is a very rare blood clotting disorder. More than 100 cases have been reported in the medical literature, although it is thought that the condition is underdiagnosed, so the number of affected individuals may be higher.
Successful treatment of molybdenum cofactor deficiency. Molybdenum cofactor deficiency is an autosomal, recessively inherited metabolic disorder, which, in the absence of an effective therapy, leads to early childhood death due to neurological. Factor x deficiency is a rare disorder that affects the bloods ability to clot. Clinical neuroimaging features and outcome in molybdenum cofactor deficiency author links open overlay panel kayal vijayakumar mbbs a rox gunny mbbs b stephanie grunewald md c lucinda carr md a kling w. Acquired factor x deficiency has a variety of causes including liver disease, vitamin k deficiency, exposure to certain medications that affect clotting, and certain types of cancer. Enable javascript to view the expandcollapse boxes. We report a case of genetically confirmed molybdenum cofactor deficiency in an infant presenting with difficult to control neonatal seizures, and a severe cystic leukoencephalopathy on brain magnetic resonance imaging mri. Heterozygotes for a mutation in the fxi gene have a. Dec 14, 2015 study of orgn001 formerly alxn1101 in neonates, infants and children with molybdenum cofactor deficiency mocd type a the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Molybdenum cofactor deficiency mocd is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage. Factor x deficiency an inherited bleeding disorder 6 there are four steps involved in forming a plug. The cofactor forms the active site in aldehyde oxidase, xanthine oxidoreductase, mitochondrial amidoxime reducing component and sulphite oxidase. The mocs1 gene mutations involved in molybdenum cofactor deficiency likely eliminate the function of mocs1a, mocs1b, or both, although in rare cases that are less severe, some protein function may remain. Its incidence is estimated at 1 in 100,000 in the general population.
Individuals with severe deficiency have only a mild bleeding tendency, which is typically provoked by surgery, but the risk of bleeding is not restricted to individuals with severe. Factor x deficiency, also called stuartprower factor deficiency, is a condition caused by not having enough of the protein known as factor x in your blood. Study of orgn001 formerly alxn1101 in neonates, infants. The first case of mocd due to pathogenic variants in gphn was described in a consanguineous danish family and was the third of three siblings who had expired in the neonatal period with classic features of mocd, namely intractable seizures from birth, hypotonia and hyperreflexia. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment intractable seizures. Molybdenum cofactor deficiency mocd is a rare autosomal recessive disorder that may present during the neonatal period with intractable.
Until recently the disorder always was fatal early in life. Xanthine accumulates only in molybdenum cofactor deficiency. Molybdenum cofactor deficiency mocd is a severe autosomal recessive neonatal metabolic disease that causes seizures and death or. Factor x deficiency is a bleeding disorder that can be inherited or acquired. When emily bartko, 4, of las vegas, was an infant, bruising came easily. Omim 252150 is a rare autosomalrecessive neurodegenerative disorder characterized by a combined deficiency of molybdenumdependent enzymes xanthine oxidase, sulfite oxidase, nitrogenases, and nitrate reductase over 100 cases have been reported, from approximately 50 unrelated families of diverse ethnic. Mocd results in deficiency of the molybdenum cofactor dependent enzymes sulfite oxidase, xanthine dehydrogenase, aldehyde oxidase and mitochondrial. Inherited prothrombin deficiency is expressed in one of two forms. Here are links to possibly useful sources of information about molybdenum cofactor deficiency. One report in the literature describes successful hd initiation by av fistula in a. A characteristic biochemical profile permits early diagnosis. Factor x deficiency is often caused by an inherited defect in the factor x gene. Feb 18, 2020 girolami a, cosi e, santarossa c, ferrari s, girolami b, lombardi am.
The association of molybdenum cofactor deficiency and pyloric. Molybdenum cofactor deficiency mocd is a rare inherited metabolic disorder characterized by neona tal onset intractable seizures, severe. Combined factor v and factor viii deficiency is diagnosed after finding prolonged screening tests activated partial thromboplastin time, aptt and prothrombin time, pt, then by following up to determine factor v and viii activities are both lower than normal. These results should be confirmed by a specialized health care provider. Age and sex distribution factor xii deficiency is an extremely rare disorder, estimated to occur at a frequency of 1. Other terms for this disorder include plasma thromboplastin antecedent pta deficiency, rosenthal syndrome, and hemophilia c see image below. Raising awareness regarding this condition has significant.
Molybdenum is bound to a unique pterin, thus forming the molybdenum cofactor moco, which, in different variants, is the active compound at the catalytic site of all molybdenumcontaining enzymes in nature, except bacterial molybdenum nitrogenase. Molybdenum cofactor deficiency definition of molybdenum. Step 3 the platelets stick to the walls of damaged vessels and spread out, which is called platelet adhesion. Find out information about molybdenum cofactor deficiency. All it took was the pressure from a car seatbelt or her parents hands as they picked her up to leave telltale marks. Since many of those affected do not present any symptoms, the exact prevalence of the disorder is unknown. Clotting factor x, or stuartprower factor, is a vitamin kdependent serine protease that serves as the first enzyme in the common pathway of thrombus formation. Pdf a case of molybdenum cofactor deficiency researchgate. Clinical neuroimaging features and outcome in molybdenum. Molybdenum cofactor deficiency in humans results in the loss of the activity of molybdoenzymes sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Molybdenum cofactor deficiency causes severe neonatal metabolic disease, seizures and death or severe brain damage.
Molybdenum cofactor deficiency article about molybdenum. The severity of the disorder and the associated signs and symptoms can vary significantly from person to person. Without the activity of one or both of these proteins, molybdenum cofactor biosynthesis is impaired. Molybdenum cofactor deficiency phenotypic variability in a family with a lateonset variant. Molybdenum deficiency an overview sciencedirect topics. Molybdenum cofactor deficiency due to mocs2 mutation. Molybdenum cofactor deficiency type a molybdenum cofactor deficiency mocd is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenum dependent enzymes. Bleeding ranges from mild to severe depending on how severe the deficiency is. Mocd results in deficiency of the molybdenum cofactor dependent enzymes sulfite oxidase, xanthine dehydrogenase, aldehyde oxidase and mitochondrial amidoxime reducing component. Factor x fx, or stuartprower factor, deficiency was first identified in the 1950s in the us and england in two patients.
Factor xi fxi deficiency is an autosomal disorder that may be associated with bleeding. Chong md b catherine devile md a robert robinson phd a niamh mcsweeney mbbs a prab prabhakar mbbs a. Successful treatment of molybdenum cofactor deficiency type a. Factor i deficiency includes several related disorders known as congenital fibrinogen defects.
Molybdenum cofactor deficiency in a malaysian child singapore. Molybdenum cofactor deficiency associated with dandywalker. Common features of factor x deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Prothrombin factor ii deficiency medicationstreatment a prothrombin activity level of 10% has been identified as the minimum level required for hemostasis per multiple national registries. Factor x deficiency genetic and rare diseases information. It has been induced in chicks and rats, but only after tungsten was added at a ratio of. Factor ii, also known as prothrombin, is a protein made in. Molybdenum cofactor deficiency type a disease page.
Molybdenum cofactor deficiency is a rare condition that is estimated to occur in 1 in 100,000 to 200,000 newborns worldwide. The disease belongs to a group of genetic disorders known as thrombophilias. Bayram e1, topcu y, karakaya p, yis u, cakmakci h, ichida k, kurul sh. Haemophilia a factor viii deficiency information patient. Apr 10, 2018 the prognosis of factor ii deficiency both inherited and noninherited type is generally good with appropriate treatment. Study of orgn001 formerly alxn1101 in neonates, infants and children with molybdenum cofactor deficiency mocd type a the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Investigation of molybdenum cofactor deficiency due to mocs2. Orphanet is a european reference portal for information on rare diseases and orphan drugs. Step 2 the blood vessels contract to restrict the blood. Molybdenum cofactor moco is comprised of a diet derived molybdenum oxide ion and a dithiolate pterin moiety known as molybdopterin.
Click on the link to view a sample search on this topic. Prothrombin factor ii deficiency fii, factor ii thrombin. Molybdenum cofactor deficiency type a molybdenum cofactor deficiency mocd is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenumdependent enzymes. Protein c deficiency is a rare genetic trait that predisposes to thrombotic disease. Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Protein c deficiency is associated with an increased incidence of venous thromboembolism relative risk 810, whereas no association with arterial thrombotic disease. Nyhan and others published molybdenum cofactor deficiency find, read and cite all the research you need on researchgate. Prevalence of bleeding manifestations in 128 heterozygotes for factor x deficiency, mainly for fx friuli, matched vs 128 unaffected family members, during a long sequential observation period 23. Diagnosis of molybdenum cofactor deficiency the lancet. It results in excessive or prolonged bleeding after an injury or surgery. Molybdenum cofactor deficiency associated with dandy. Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads to accumulation of toxic levels of sulphite and neurological damage. Molybdenum cofactor deficiency mocd is a rare inherited metabolic disorder characterized by neonatal onset intractable seizures, severe psychomotor retardation, dysmorphic facies, and dislocated ocular lenses. The vast majority of cases are inherited but acquired forms do exist, largely in older patients, due to autoantibodies directed against factor viii or haematological malignancy.
If a molybdenum cofactor deficiency occurs, the three enzymes that are dependent on it fail and the result is an accumulation of xanthine and hypoxanthine. This is a rare disease entity that can be easily missed or confused with hypoxic ischemic encephalopathy. Molybdenum cofactor deficiency is a rare autosomal recessive disorder with devastating neurological manifestations, characterised. Severe loss of neocortical neurons, gliosis, and cystic necrosis of. The resultant severe phenotype, which includes progressive neurological damage leading in most cases to early childhood death, results primarily from the deficiency of sulfite oxidase. There is a 1in2 chance that a child will be a carrier. Study of orgn001 formerly alxn1101 in neonates, infants and. Pdf successful treatment of molybdenum cofactor deficiency. They comprise 2 disorders with little to no fibrinogen, a disorder where the fibrinogen is abnormal and doesnt work the way it should, and a disorder where both of these are combined.
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