Create issue ticket

839 Possible Causes for 3 Methylglutaconate

Show results in: 日本語

  • Adrenal Insufficiency

    Elevated plasma lactate and urinary 3-methylglutaconate led to a muscle biopsy which confirmed partial complex IV deficiency.[]

  • Movement Disorder

    We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging[] Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic[] Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease[]

  • X-Linked Alport Syndrome

    3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Albinism Deafness Syndrome alpha thalassemia-X-linked intellectual disability syndrome Alport[]

  • Dilated Cardiomyopathy

    Dilated cardiomyopathy and 3-methylglutaconic aciduria in her urine organic acid analysis also improved.[] methylglutaconic aciduria.[] […] developmental delay, hypotonia, ataxia, the dilated cardiomyopathy with ataxia syndrome should be considered even in the differential diagnosis in the absence of cardiomyopathy or 3-[]

  • Behr Syndrome

    The diagnosis of OPA3 -related 3-methylglutaconic aciduria is suggested by elevated urinary excretion of 3-methylglutaconate (3-MGC) and 3-methylglutaric acid (3-MGA) and[] Mutations in one of these genes, OPA3 (606580), result in type III 3-methylglutaconic aciduria (MGCA3; 258501).[] Genetics Sibs born to consanguineous parents suggest autosomal recessive inheritance in both Behr syndrome with ataxia and in 3-methylglutaconic aciduria, type III.[]

  • Barth Syndrome

    Disease synonyms BTHS MGCA2 3-methylglutaconic aciduria, type II MGA, type II MGA2 cardioskeletal myopathy with neutropenia and abnormal mitochondria MGA type 2 3-methylglutaconic[] […] known as 3-Methylglutaconic aciduria type II), is an X-linked genetic disorder.[] Barth syndrome (BTHS), also referred to as 3-methylglutaconic aciduria type II is an extremely rare X-linked multi-system disorder that is usually diagnosed in infancy.[]

  • Propionic Acidemia

    Four acetyl CoA precursors increased during clinical episodes: glutaric acid, a catabolic intermediate of lysine; 3-hydroxyisovaleric acid and 3-methylglutaconic acid, catabolic[] methylglutaconic aciduria E71.118 Other branched-chain organic acidurias E71.12 Disorders of propionate metabolism E71.120 Methylmalonic acidemia E71.121 Propionic acidemia[] […] metabolism and fatty-acid metabolism E71.0 Maple-syrup-urine disease E71.1 Other disorders of branched-chain amino-acid metabolism E71.11 Branched-chain organic acidurias E71.111 3-[]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    methylglutaconic aciduria seen in 3-MGA type IV patients may result from a variety of causes and genetic factors.[] […] microdeletion syndrome 22q11.2 deletion syndrome 22q11.2 microduplication syndrome 2q23.1 microdeletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3-[] Diagnostic methods 3-methylglutaconic aciduria can be diagnosed by analysis of urinary organic acid excretion but specific diagnosis of 3-MGA type IV requires exclusion of[]

  • Alpers Syndrome

    Ann Neurol 45(1):54–58 PubMed CrossRef Google Scholar Wortmann SB, Rodenburg RJT, Jonckheere A et al (2009) Biochemical and genetic analysis of 3-methylglutaconic aciduria[]

  • Biotin-Responsive Basal Ganglia Disease

    methylglutaconic aciduria (3-MGA-uria) is a marker for mitochondrial dysfunction.[] In particular, consistently elevated urinary excretion of 3-methylglutaconic acid is the hallmark of a small but growing group of inborn errors of metabolism (IEM) due to[] Neuropediatrics DOI: 10.1055/s-0038-1667345Neonatal-onset movement disorders, especially in combination with seizures, are rare and often related to mitochondrial disorders. 3-[]

Further symptoms