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839 Possible Causes for 3 Methylglutaconate

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  • Adrenal Insufficiency

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

  • 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[ncbi.nlm.nih.gov] Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic[ncbi.nlm.nih.gov] Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease[ncbi.nlm.nih.gov]

  • 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[rgd.mcw.edu]

  • Dilated Cardiomyopathy

    Dilated cardiomyopathy and 3-methylglutaconic aciduria in her urine organic acid analysis also improved.[ncbi.nlm.nih.gov] methylglutaconic aciduria.[ncbi.nlm.nih.gov] […] 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-[ncbi.nlm.nih.gov]

  • 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[ncbi.nlm.nih.gov] Mutations in one of these genes, OPA3 (606580), result in type III 3-methylglutaconic aciduria (MGCA3; 258501).[malacards.org] Genetics Sibs born to consanguineous parents suggest autosomal recessive inheritance in both Behr syndrome with ataxia and in 3-methylglutaconic aciduria, type III.[disorders.eyes.arizona.edu]

  • 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[flybase.org] […] known as 3-Methylglutaconic aciduria type II), is an X-linked genetic disorder.[checkorphan.org] 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.[radiopaedia.org]

  • 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[ncbi.nlm.nih.gov] methylglutaconic aciduria E71.118 Other branched-chain organic acidurias E71.12 Disorders of propionate metabolism E71.120 Methylmalonic acidemia E71.121 Propionic acidemia[icd10data.com] […] 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-[icd10data.com]

  • 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.[orpha.net] […] microdeletion syndrome 22q11.2 deletion syndrome 22q11.2 microduplication syndrome 2q23.1 microdeletion syndrome 2q33.1 microdeletion syndrome 2q37 microdeletion syndrome 3-[sanfordresearch.org] 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[orpha.net]

  • 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[link.springer.com]

  • Biotin-Responsive Basal Ganglia Disease

    methylglutaconic aciduria (3-MGA-uria) is a marker for mitochondrial dysfunction.[medworm.com] 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[medworm.com] Neuropediatrics DOI: 10.1055/s-0038-1667345Neonatal-onset movement disorders, especially in combination with seizures, are rare and often related to mitochondrial disorders. 3-[medworm.com]

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