Amish lethal microcephaly

{{Infobox medical condition

|name = Amish lethal microcephaly

|synonyms = Microcephaly, Amish type {{cite web | url=https://rarediseases.org/?s=W&post_type=rare-diseases | title=You searched for W }}

|image = Autosomal recessive inheritance, pedigree example.png

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|caption = Amish letal microcephaly is inherited in an autosomal recessive fashion.

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|specialty = Medical genetics

|symptoms = liver, brain and craniofacial abnormalities

|complications = Death

|onset = Birth

|duration = affected baby's entire life-span

|types =

|causes = Genetic mutation and Founder effect

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|differential = Microcephaly, Sudden infant death syndrome

|prevention = None

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|frequency = 1 in 500 babies inside Old Order Amish communities in Pennsylvania

|deaths =

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Amish lethal microcephaly is a rare genetic disorder which is characterized by severe microcephaly (small head) from birth, brain hypoplasia (underdeveloped brain), micrognathia (small chin), irritability (at second or third month of age), seizures, problems controlling their body temperature, high levels of alpha-ketogluraic acid in their urine,{{cite web |title=Amish lethal microcephaly |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99742 |website=Orphanet}} and less commonly hepatomegaly (large liver). Babies with this condition typically die when they are 6 months old.{{Cite book| url=https://pubmed.ncbi.nlm.nih.gov/20301539/ | pmid=20301539 | year=1993 | last1=Biesecker | first1=L. G. | last2=Adam | first2=M. P. | last3=Ardinger | first3=H. H. | last4=Pagon | first4=R. A. | last5=Wallace | first5=S. E. | author6=Bean LJH | last7=Gripp | first7=K. W. | last8=Mirzaa | first8=G. M. | last9=Amemiya | first9=A. | title=Amish Lethal Microcephaly | chapter=SLC25A19-Related Thiamine Metabolism Dysfunction | publisher=University of Washington, Seattle }}{{cite web |title=Amish lethal microcephaly |url=https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly |website=Genetic and Rare Diseases Center |publisher=National Center for Advancing Translation Sciences}} This disorder was named after the Amish because it was discovered in Old Order Amish communities in Pennsylvania, where it affects 1 in 500 babies. Additionally, 1 in 11 people in those communities are unaffected carriers of the recessive mutation that causes the disorder. No cases of the disorder have been found outside this population.{{cite web |title=Amish lethal microcephaly |url=https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly/#frequency |website=MedlinePlus |publisher=National Library of Medicine}}{{cite web |title=#607196 - MICROCEPHALY, AMISH TYPE; MCPHA |url=https://www.omim.org/entry/607196 |website=OMIM}}{{Cite web |title=Microcephaly, Amish Type (MCPHA) |url=https://www.malacards.org/card/microcephaly_amish_type |website=MalaCards Human Disease Database |publisher=Weizmann Institute of Science}}

This disorder is caused by mutations in the SLC25A19 gene in chromosome 17q25, it follows an autosomal recessive inheritance pattern{{cite book | chapter-url=https://www.ncbi.nlm.nih.gov/books/NBK1365/ | title=GeneReviews® | chapter=Amish Lethal Microcephaly | year=1993 | publisher=University of Washington, Seattle | pmid=20301539 | last1=Biesecker | first1=L. G. | last2=Adam | first2=M. P. | last3=Mirzaa | first3=G. M. | last4=Pagon | first4=R. A. | last5=Wallace | first5=S. E. | author6=Bean LJH | last7=Gripp | first7=K. W. | last8=Amemiya | first8=A. }}{{cite journal | doi=10.1002/ajmg.10529 | title=Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria | year=2002 | last1=Kelley | first1=Richard I. | last2=Robinson | first2=Donna | last3=Puffenberger | first3=Erik G. | last4=Strauss | first4=Kevin A. | last5=Morton | first5=D. Holmes | journal=American Journal of Medical Genetics | volume=112 | issue=4 | pages=318–326 | pmid=12376931 | doi-access=free }}