ACAD9 deficiency
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occur in rare cases.
Descrizione
ACAD9 deficiency is a condition that varies in severity and can cause muscle weakness (myopathy), heart problems, and intellectual disability. Nearly all affected individuals have a buildup of a chemical called lactic acid in the body (lactic acidosis). Additional signs and symptoms that affect other body systems occur in rare cases.
Mildly affected individuals with ACAD9 deficiency usually experience nausea and extreme fatigue in response to physical activity (exercise intolerance). People with ACAD9 deficiency who are moderately affected have low muscle tone (hypotonia) and weakness in the muscles used for movement (skeletal muscles). Severely affected individuals have brain dysfunction combined with myopathy (encephalomyopathy); these individuals usually also have an enlarged and weakened heart muscle (hypertrophic cardiomyopathy), which is typically fatal in infancy or childhood.
Individuals with ACAD9 deficiency who survive past early childhood often have intellectual disability and may develop seizures. Rare signs and symptoms of ACAD9 deficiency include movement disorders and problems with liver and kidney function.
Some individuals with ACAD9 deficiency have had improvement in muscle strength and a reduction in lactic acid levels with treatment.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Altri nomi
Acyl-CoA dehydrogenase 9 deficiency
Deficiency of acyl-CoA dehydrogenase family member 9
Mitochondrial complex I deficiency due to ACAD9 deficiency
Related patient information and medicines
Patient information leaflet
Emofilia
Haemophilia is a rare bleeding disorder that affects your ability to make a clot. The blood contains substances called clotting factors that work with platelets to form a clot. Haemophilia is a rare bleeding disorder caused by deficiency of clotting factors. ... Haemophilia B is the more common problem and is due to a deficiency of clotting factor.
Patient information leaflet
Carenza di acido folico
A normal balanced diet contains enough folic acid. However, a folic acid deficiency may cause anaemia and sometimes other symptoms. What is folic acid deficiency. Folic acid deficiency is a lack of folic acid in the blood. Folic acid (also known as folate) is a B vitamin and is needed to make new cells in your body, including red blood cells. Your.
Patient information leaflet
Deficit della visione dei colori
Colour vision deficiency, also called colour blindness, is when you are unable to see certain colours. The most common form of the condition is red-green colour vision deficiency. What is colour vision deficiency. Colour vision deficiency, or colour blindness, is when you have difficulty seeing or telling the difference between certain colours..
Patient information leaflet
Posso prendere Esomeprazolo e Indapamide insieme?
Why this happens Indapamide is a 'water pi... Esomeprazole is a inibitore della pompa protonica (IPP) that can reduce the amount of magnesium your body absorbs from food. When used together, these effects can add up, leading to a deficiency. Avvertenza This information is for general educational purposes only and should not be relied upon as a substitute.
Patient information leaflet
Posso assumere acido folico e vitamina C insieme?
Precauzioni importanti Carenza di vitamina B12 (Pernicious Anaemia) Folic acid can mask the symptoms of vitamin Carenza di vitamina B12. Alcohol interferes with... Chronic alcohol consumption is a common cause of folate deficiency. Using other medicines Taking multiple medicines. Our Controllo Interazioni Farmaci helps you check whether your prescriptions,.
Patient information leaflet
Posso prendere l'acido folico e il metotrexato insieme?
Why this happens Methotrexate works by blocking the body's use of folate (a B vitamin) to stop certain cells from growing too quickly. Folic acid is a man-made version of folate. While it helps protect healthy cells from methotrexate's side effects, too much of it can "compete" with the medicine, potentially stopping it from working properly.
Ulteriori letture e riferimenti
- ACAD9 deficiency; MedlinePlus, National Library of Medicine.
- Aintablian HK, Narayanan V, Belnap N, Ramsey K, Grebe TA. An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach. Mol Genet Metab Rep. 2016 Dec 29;10:38-44. doi: 10.1016/j.ymgmr.2016.12.005. eCollection 2017 Mar.
- Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rotig A. High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. Eur J Hum Genet. 2016 Aug;24(8):1112-6. doi: 10.1038/ejhg.2015.264. Epub 2015 Dec 16.
- Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S, Nassogne MC. Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients. Mol Genet Metab. 2016 Jul;118(3):185-189. doi: 10.1016/j.ymgme.2016.05.005. Epub 2016 May 13.
- Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rotig A, de Coo IF, Smeets HJ. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Brain. 2011 Jan;134(Pt 1):210-9. doi: 10.1093/brain/awq273. Epub 2010 Oct 7.
- Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, Uziel G, Lamantea E, Invernizzi F, Poulton J, Rolinski B, Iuso A, Biskup S, Schmidt T, Mewes HW, Wittig I, Meitinger T, Zeviani M, Prokisch H. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet. 2010 Dec;42(12):1131-4. doi: 10.1038/ng.706. Epub 2010 Nov 7.
- Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab. 2010 Sep 8;12(3):283-94. doi: 10.1016/j.cmet.2010.08.002.
- Nouws J, Te Brinke H, Nijtmans LG, Houten SM. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. Hum Mol Genet. 2014 Mar 1;23(5):1311-9. doi: 10.1093/hmg/ddt521. Epub 2013 Oct 24.
- Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J, Munnich A, Rotig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26.
- Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S. Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency. Neuromuscul Disord. 2017 May;27(5):473-476. doi: 10.1016/j.nmd.2017.02.005. Epub 2017 Feb 14.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.