Amish lethal microcephaly
Zuletzt aktualisiert 24. Mai 2024
Erfüllt die redaktionelle Richtlinien
- HerunterladenHerunterladen
- Teilen
- Language
- Diskussion
- Audio-Version
- Zu bevorzugten Quellen bei Google hinzufügen
Amish lethal microcephaly is a disorder in which infants are born with an usually small head (microcephaly) and underdeveloped brain.
Beschreibung
Amish lethal microcephaly is a disorder in which infants are born with an usually small head (microcephaly) and underdeveloped brain.
Infants with Amish lethal microcephaly have a sloping forehead and an extremely small head size. They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly).
Affected infants may have seizures and difficulty maintaining their body temperature. Often they become very irritable starting in the second or third month of life. A compound called alpha-ketoglutaric acid can be detected in their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness they tend to develop elevated levels of acid in the blood and tissues (metabolic acidosis). Infants with this disorder typically feed adequately but do not develop skills such as purposeful movement or the ability to track faces and sounds. Affected infants live only about six months.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Amish microcephaly
MCPHA
Microcephaly, Amish type
Related patient information and medicines
Patient information leaflet
Schrillkopf-Syndrom
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
Pneumothorax
A Pneumothorax is sometimes called a "collapsed lung" and it describes the condition in which air has become trapped next to a lung. Many cases occur without warning, particularly in healthy young men. Some develop as a complication of a chest injury or a lung disease. The most common symptom is a sudden sharp chest pain followed by pains on.
Patient information leaflet
Zika-Virus
Zika-Virus was a rare illness before 2015 when a sudden outbreak in Brazil became the subject of international headlines. However, it has been at a relatively low level since 2018. You can catch Zika virus if you are bitten by an affected mosquito. Zika virus is usually a very mild illness. However, it is possibly the cause of birth defects in.
Patient information leaflet
Gesundheitsberatung für Auslandsreisen
This leaflet considers preparation für travel, aspects of personal safety, and health when travelling. Research and planning Country information In these days of adventure travel, when it can seem as though travelling to somewhere unusual, remote or simply very different is a commonplace event, it is easy to forget the dangers and importance of.
Patient information leaflet
Quallenstich
Jellyfish sind soft-bodied free-swimming animals with a jelly-like umbrella-shaped bell and trailing tentacles. A few live in fresh water, some in shallow coastal waters, and some in the deep oceans. What does a jellyfish sting feel like. Symptoms of a jellyfish sting include: Localised stinging pain, Itching, Rash, Raised stripes (welts). For the.
Weiterführende Lektüre und Referenzen
- Amish lethal microcephaly; MedlinePlus, National Library of Medicine.
- Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet. 2002 Nov 1;112(4):318-26. doi: 10.1002/ajmg.10529.
- Korf BR. What's new in neurogenetics? Amish microcephaly. Eur J Paediatr Neurol. 2003;7(6):393-4. doi: 10.1016/j.ejpn.2003.09.005. No abstract available.
- Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL, Chen A, Castegna A, Verhoeven N, Mathews CK, Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A. 2006 Oct 24;103(43):15927-32. doi: 10.1073/pnas.0607661103. Epub 2006 Oct 11.
- Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet. 2002 Sep;32(1):175-9. doi: 10.1038/ng948. Epub 2002 Aug 19.
- Siu VM, Ratko S, Prasad AN, Prasad C, Rupar CA. Amish microcephaly: Long-term survival and biochemical characterization. Am J Med Genet A. 2010 Jul;152A(7):1747-51. doi: 10.1002/ajmg.a.33373.
- Tabarki B, Thabet F, Alfadhel M. SLC25A19-Related Thiamine Metabolism Dysfunction. 2003 Sep 4 [updated 2023 Mar 30]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1365/
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
24. Mai 2024 | Neueste Version
1 Nov 2007 | Ursprünglich veröffentlicht
Nehmen Sie an der Diskussion teil
Teilen Sie Ihre Gedanken oder Erfahrungen mit anderen in unserem Patientengemeinschaften.
Fragen, teilen, verbinden.
Durchsuchen Sie Diskussionen, stellen Sie Fragen und teilen Sie Erfahrungen zu Hunderten von Gesundheitsthemen.
Abonnieren Sie den Patienten-Newsletter
Ihre wöchentliche Dosis klarer, vertrauenswürdiger Gesundheitsberatung - geschrieben, um Ihnen zu helfen, sich informiert, selbstbewusst und in Kontrolle zu fühlen.
Durch das Abonnieren akzeptieren Sie unsere Datenschutzrichtlinie. Sie können sich jederzeit abmelden. Wir verkaufen Ihre Daten niemals.