Amish lethal microcephaly
עודכן לאחרונה 24 May 2024
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Amish lethal microcephaly is a disorder in which infants are born with an usually small head (microcephaly) and underdeveloped brain.
תיאור
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
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קריאה נוספת והפניות
- 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/
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