To our knowledge, only 1 complete report of the neuropathological findings in an adult has been published. Individuals with methylmalonic or propionic aciduria should follow a diet free from the amino acids involved in the pathology methionine. Amino acids are the constituent units of proteins and are therefore taken daily as part of ones diet. Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase atp. These autosomal recessive disorders result from deficient activity of methylmalonyl. Acidemia metilmalonica con homocistinuria orphanet. It can also be due to defects in its cofactor, adenosylcobalamin. Among these disorders, methyl malonic aciduria, propionic aciduria, maple syrup urine disease and.
Carrier screening to help detect the risk of having a baby with a specific inherited disorder, such as cystic fibrosis. Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting. Among rare diseases, 2methyl3hydroxybutyric aciduriais 2m3hba is very rare. Methylmalonic aciduria an overview sciencedirect topics. Aciduria medical definition merriamwebster medical. Orotic aciduria aka hereditary orotic aciduria is a disease caused by an enzyme deficiency resulting in a decreased ability to synthesize pyrimidines. Files are available under licenses specified on their description page. In particular, the coenzyme alinked form of methylmalonic acid, methylmalonylcoa, is converted into succinylcoa by methylmalonylcoa mutase in a reaction that requires vitamin b12 as a cofactor. Two types of mma that arenon responsive to vitamin b12 and caused by mutations in the mmacoa mutase mut gene are. Complications of methylmalonic acidemia include mental retardation, nephritis, chronic renal tubular acidosis, metabolic stroke, pancreatitis, growth failure and functional immune impairment. Methylmalonic acidemiamut information for health professionals.
Aciduria definition of aciduria by medical dictionary. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen hepatosplenomegaly, lymphadenopathy, abdominal pain, diarrhea, joint pain, and skin rashes. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system. Methylmalonic aciduria confirmed with high level of urine methlmalonic acid and increased serum level of propionyl carnitine.
Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. Argininosuccinic aciduria is a rare genetic disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase asl. Affected infants can experience vomiting, dehydration, weak muscle tone hypotonia, developmental. A rare genetic disorder where the bodys cells are unable to make sufficient energy resulting in an accumulation in the body of 3methylglutaconic acid. Mevalonic aciduria may have severe consequences for patients. Acidemia, methylmalonic nord national organization for. Methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonylcoenzyme a coa to succinylcoa. An adult form can have a benign course with a mild biochemical defect. The early diagnosis and treatment, and good control of nutritional status can help these patients. This page was last edited on september 2009, at 05. Methylmalonic acidemia, also called methylmalonic aciduria, is an autosomal recessive metabolic disorder that disrupts normal amino acid metabolism. Pdf methylmalonic acidemia with emergency hypertension. Type 4 is characterized by symptoms which overlap type 1 and 3.
Argininosuccinic aciduria, is an inherited disorder that causes the accumulation of argininosuccinic acid also known as asa in the blood and urine. Methylmalonic aciduria is clinically similar to propionic acidaemia and is due to a deficiency of methylmalonylcoa mutase. Methylmalonic acidemia an overview sciencedirect topics. Methylmalonic acidemiaaciduria mma is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. Isolated mma is primarily caused by the deficiency of methylmalonylcoa mutase mma mut. Proteins are made of building blocks called amino acids. Methylmalonic acidemia mma is an organic acid disorder. Methylmalonic acidemia can be caused by an inherited deficiency of methylmalonylcoa mutase, an adenosylcobalaminrequiring enzyme that converts lmethylmalonylcoa to succinylcoa figure 975, or in the metabolic pathway that catalyzes the biosynthesis of adenosylcobalamin from vitamin b 12 figure 978 and table 972. See also autosomal dominant optic atrophy3, an allelic disorder with a less severe phenotype. Orotic aciduria is associated with megaloblastic anemia due to aciduriz pyrimidine synthesis, which leads to decreased nucleotidelipid cofactors needed for erythrocyte membrane synthesis in the bone marrow. Mevalonic acid accumulates because of failure of conversion to 5phosphomevalonic acid, which is catalyzed by mevalonate kinase. Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats lipids properly. There are many specific forms, such as aminoaciduria, orotic aciduria, and so on.
Aciduria definition at, a free online dictionary with pronunciation, synonyms and translation. Aciduria metilmalonica, lassociazione malattie metaboliche dona. For a phenotypic description and a discussion of genetic heterogeneity of 3. More detailed information about the symptoms, causes, and treatments of 3methylglutaconic aciduria, type 1 is available below. Methylmalonic aciduria and propionic aciduria are hereditary metabolic diseases related to the metabolism of some amino acids. Methylmalonic acidemia mma or methylmalonic aciduria, simply, is the elevation of methylmalonic acid in the blood andor the urine generally it is seen in both. The result of this condition is the inability to properly digest specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic acid in the blood.
Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats. Objective to present the clinical, neuroimaging, and neuropathological findings of l2hydroxyglutaric aciduria. All structured data from the file and property namespaces is available under the creative commons cc0 license. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Mevalonic aciduria genetic and rare diseases information. Available data from the literature suggest that the use of new therapeutic strategies has improved survival but has not modified neurodevelopment. Although hereditary orotic aciduria and refractory megaloblastic anemia associated with retardation of growth and development was described by huguley et al1 as a genetic defect in pyrimidine metabolism in 1959, it was not until 1965 that additional cases were identified. The topic 4hydroxybutyric aciduria you are seeking is a synonym, or alternative name, or is closely related to the medical condition succinic semialdehyde dehydrogenase deficiency. Combined malonic and methylmalonic aciduria cmamma is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body.
A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in. Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a. Classical organic acidurias comprise isovaleric aciduria, propionic aciduria and methylmalonic aciduria. When the latter defect occurs in a proximal step that also impairs the. Methylmalonic and propionic aciduria pa are the most frequent forms of branched. Patients typically present at the age of 1 month to 1 year with neurologic manifestations, such as seizure, encephalopathy, and stroke. Methylmalonic acidemia with homocystinuria mmah is a rare congenital. In 183 short chapters, the book provides the essentials clinicians need on symptomssigns, diagnostic tests, and neurologic disorders of all etiologies. Argininosuccinic aciduria nord national organization. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to lifethreatening.
This enzyme is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. Acidemia metilmalonica, pancitopenia, cianocobalamina. Our patients demonstrate that gastroenterologic disorders constitute a previously unrecognized etiology to be differentiated from inborn enzymatic errors associated with glutaric aciduria. Ettedgui, in paediatric cardiology third edition, 2010.
Background l2hydroxyglutaric aciduria is a rare, infantileonset, autosomal recessive organic aciduria affecting exclusively the central nervous system. The content of the website and databases of the national organization for rare disorders nord is ed and may not be reproduced, copied, downloaded or disseminated, in any way, for any commercial or public purpose, without prior written authorization and approval from nord. A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine. Methylmalonic acidemia with emergency hypertension nefrologia. Under normal conditions, both proteins and amino acids can be used for energy to support muscles and growth. Methylmalonic acid is a malonic acid derivative, which is a vital intermediate in the metabolism of fat and protein. Methylmalonic acidemia genetics home reference nih.
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