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526 Possible Causes for Isovaleric Acidemia

  • Diabetes Mellitus Type 1

    Progressive signs of ataxia in a eight year old girl with hypo-active knee and ankle jerks, prompted the analysis of the frataxin gene (FXN; 606829). The most common molecular abnormality--GAA trinucleotide repeat expansion in intron 1--was found with 300 GAA repeats (1490 bp) (normal individuals have 5 to 30 GAA[…][ncbi.nlm.nih.gov]

  • Coma

    Synonym(s): Persistent Vegetative State Table of Contents (click to jump to sections) What is Coma? A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to[…][web.archive.org]

  • Multiple Sclerosis

    Int J Mol Sci. 2018 Aug 19;19(8). pii: E2448. doi: 10.3390/ijms19082448. Sáenz-Cuesta M 1, 2 , Alberro A 3 , Muñoz-Culla M 4, 5 , Osorio-Querejeta I 6, 7 , Fernandez-Mercado M 8 , Lopetegui I 9, 10, 11 , Tainta M 12 , Prada Á 13, 14, 15 , Castillo-Triviño T 16, 17, 18 , Falcón-Pérez JM 19, 20 , Olascoaga J 21, 22, 23 , Otaegui D[…][ncbi.nlm.nih.gov]

  • Metabolic Acidosis

    Neonates with intoxication IEMs usually have elevated AGs from accumulation of the toxic organic acid, such as isovaleric acid in isovaleric acidemia (IVA), in addition to[mhmedical.com] Ketoacidosis is also a rare manifestation of congenital isovaleric and methylmalonic acidemia.[merckmanuals.com]

  • Organic Aciduria

    GC/MS is widely used for the analysis of urinary organic acids for the chemical diagnosis of organic acidurias such as methylmalonic acidemia, propionic acidemia, isovaleric[ncbi.nlm.nih.gov] acidemia (IVA) Glutaric aciduria type I (GA1) E-IMD - www.e-imd.net SiteMap Disclaimer Contact us Newsletter Webmaster Designed by CYIM[e-imd.org] Glycine therapy in isovaleric acidemia. J. Pediatr. 92 (1978) 813–817.[doi.org]

  • Isovaleric Acidemia

    Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in the United States. Mutations in the IVD gene cause isovaleric acidemia.[ghr.nlm.nih.gov] Health problems related to isovaleric acidemia range from very mild to life-threatening.[ghr.nlm.nih.gov] Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly.[ghr.nlm.nih.gov]

  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency

    For these infants, elevated C5-acylcarnitines suggested a diagnosis of isovaleric acidemia (IVA), a metabolic defect of leucine metabolism.[ncbi.nlm.nih.gov] SBCADD is included as a secondary target condition in most newborn screening programs, as the key analyte is the same as is used to identify isovaleric acidemia.[en.wikipedia.org] C5, may be indicative of 2-methylbutyryl-CoA dehydrogenase deficiency or isovaleric acidemia, depending on whether the metabolite measured is primarily methylbutyrylcarnitine[medical-dictionary.thefreedictionary.com]

  • Anemia

    BACKGROUND: Posterior reversible encephalopathy syndrome is a neurotoxic condition that occurs as a result of the failure of posterior circulatory autoregulation in response to acute changes in blood pressure. Overperfusion with resultant disruption of the blood-brain barrier results in vasogenic edema, but not[…][ncbi.nlm.nih.gov]

  • Sarcosinemia

    […] type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria Leucine Maple syrup urine disease · Isovaleric acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency[wiki30.com] ( Maple syrup urine disease , Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia , 3-Methylcrotonyl-CoA carboxylase deficiency ) - Transport ( Cystinuria , Cystinosis[bionity.com] ( Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency ) - Transport ( Cystinuria, Cystinosis[bionity.com]

  • Valinemia

    Isovaleric acidemia Maple syrup urine disease Propionic acidemia[en.wikipedia.org] See also Isovaleric acidemia Maple syrup urine disease Propionic acidemia References Dancis J, Hutzler J, Tada K, Wada Y, Morikawa T, Arakawa T (1967). "Hypervalinemia.[wikidoc.org]

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