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<span>Amish lethal microcephaly</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly/</span>
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<h1>Amish lethal microcephaly</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
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<h2>Description</h2>
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<section><div class="mp-content"><p>Amish lethal microcephaly is a disorder in which infants are born with an usually small head (microcephaly) and underdeveloped brain.</p><p>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).</p><p>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.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="frequency">
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<h2>Frequency</h2>
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<section><div class="mp-content"><p>Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the Old Order Amish population of Pennsylvania. It has not been found outside this population.</p></div>
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</section>
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<div class="mp-exp exp-full" data-bookmark="causes">
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<h2>Causes</h2>
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<section><div class="mp-content"><p>Mutations in the <i><a data-pid="17809" href="https://medlineplus.gov/genetics/gene/slc25a19/">SLC25A19</a></i> gene cause Amish lethal microcephaly.</p><p>The <i>SLC25A19</i> gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the <i>SLC25A19</i> gene transports a molecule called thiamine pyrophosphate into the <a class="image-modal" data-alt="Mitochondria are structures within the cell cytoplasm." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00004O_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00004O" data-sourceurl="" data-title="Mitochondria" href="https://medlineplus.gov/images/PX00004O_PRESENTATION.jpeg" id="PX00004O_2" title="Show image">mitochondria<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, the energy-producing centers of cells. This compound is involved in the activity of a group of mitochondrial enzymes called the dehydrogenase complexes, one of which is the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development.</p><p>All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and alpha-ketoglutaric aciduria seen in Amish lethal microcephaly.</p></div>
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</section>
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<section>
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<div class="related-genes mp-exp exp-full">
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<h3>Learn more about the gene associated with Amish lethal microcephaly</h3>
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<ul class="relatedmp">
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<li><a href="https://medlineplus.gov/genetics/gene/slc25a19/">SLC25A19</a></li>
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</ul>
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</div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="inheritance">
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<h2>Inheritance</h2>
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<section><div class="mp- mp-content"><p>This condition is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.</p></div>
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</section>
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</div>
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<div class="mp-exp exp-full" data-bookmark="synonyms">
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<h2>Other Names for This Condition</h2>
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<section>
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<ul class="bulletlist">
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<li>Amish microcephaly</li> <li>MCPHA</li> <li>Microcephaly, Amish type</li>
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</ul>
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</section>
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<div class="mp-exp exp-full" data-bookmark="resources">
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<h2>Additional Information & Resources</h2>
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<section>
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<div class="mp-content">
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<h2>Genetic Testing Information</h2>
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<ul>
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<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1846648/" target="TheNewWin">Genetic Testing Registry: Amish lethal microcephaly</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
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</ul>
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</div>
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</section>
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<section>
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<div class="mp-content">
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<h2>Genetic and Rare Diseases Information Center</h2>
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<ul>
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|
||
<li><a href="https://rarediseases.info.nih.gov/diseases/8606/index" target="TheNewWin">Amish lethal microcephaly</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
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|
||
</section>
|
||
|
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<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Patient Support and Advocacy Resources</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Catalog of Genes and Diseases from OMIM</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://omim.org/entry/607196" target="TheNewWin">MICROCEPHALY, AMISH TYPE; MCPHA</a></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<h2>Scientific Articles on PubMed</h2>
|
||
<ul>
|
||
|
||
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28Microcephaly%5BMAJR%5D%29+AND+%28%28Amish%5BALL%5D%29+OR+%28mcpha%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
|
||
|
||
</ul>
|
||
|
||
</div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="mp-exp exp-full" data-bookmark="references">
|
||
<h2>References</h2>
|
||
|
||
<section>
|
||
<div class="mp-content">
|
||
|
||
<ul>
|
||
|
||
<li>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. <a href="https://pubmed.ncbi.nlm.nih.gov/12376931" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>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.
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/14623217" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>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. <a href="https://pubmed.ncbi.nlm.nih.gov/17035501" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1595310/" target="TheNewWin">Free article on PubMed Central</a></li>
|
||
|
||
|
||
<li>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. <a href="https://pubmed.ncbi.nlm.nih.gov/12185364" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>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. <a href="https://pubmed.ncbi.nlm.nih.gov/20583149" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
<li>Tabarki B, Thabet F, Alfadhel M. SLC25A19-Related Thiamine Metabolism
|
||
Dysfunction. 2003 Sep 4 [updated 2023 Mar 30]. In: Adam MP, Feldman J, Mirzaa GM,
|
||
Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet].
|
||
Seattle (WA): University of Washington, Seattle; 1993-2025. Available from
|
||
http://www.ncbi.nlm.nih.gov/books/NBK1365/
|
||
<a href="https://pubmed.ncbi.nlm.nih.gov/20301539" target="TheNewWin">Citation on PubMed</a></li>
|
||
|
||
|
||
</ul>
|
||
|
||
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|
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|
||
data-filepath="images/PX0003IA_PRESENTATION.jpeg"
|
||
data-title="Microcephaly"
|
||
data-caption="Babies with typical head size, microcephaly and severe microcephaly."
|
||
data-credit="Centers for Disease Control and Prevention"
|
||
data-alt="Illustration of a baby in profile with typical head size, which is compared to an illustration of a baby in profile with microcephaly and an illustration of a baby in profile with severe microcephaly. The babies with microcephaly and severe microcephaly have a dotted outline above their heads to show a typical head size."
|
||
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|
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<li><a href="https://medlineplus.gov/genetics/understanding/consult/prognosis/">What is the prognosis of a genetic condition?</a></li>
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