Medicine:Amish lethal microcephaly
| Amish lethal microcephaly | |
|---|---|
| Other names | Microcephaly, Amish type [1] |
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| Amish letal microcephaly is inherited in an autosomal recessive fashion. | |
| Specialty | Medical genetics |
| Symptoms | liver, brain and craniofacial abnormalities |
| Complications | Death |
| Usual onset | Birth |
| Duration | affected baby's entire life-span |
| Causes | Genetic mutation and Founder effect |
| Differential diagnosis | Microcephaly, Sudden infant death syndrome |
| Prevention | None |
| Frequency | 1 in 500 babies inside Old Order Amish communities in Pennsylvania |
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,[2] and less commonly hepatomegaly (large liver). Babies with this condition typically die when they are 6 months old.[3][4] This disorder was named after the Amish since, in Old Order Amish communities in Pennsylvania, it affects 1 in 500 babies, while 1 in 11 people in the same communities are unaffected carriers of the (recessive) mutation that causes the disorder, it has not been found outside this population.[5][6][7]
This disorder is caused by mutations in the SLC25A19 gene in chromosome 17q25, it follows an autosomal recessive inheritance pattern[8][9]
References
- ↑ "You searched for W". https://rarediseases.org/?s=W&post_type=rare-diseases.
- ↑ "Amish lethal microcephaly". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99742.
- ↑ Biesecker, L. G.; Adam, M. P.; Ardinger, H. H.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Mirzaa, G. M. et al. (1993). "SLC25A19-Related Thiamine Metabolism Dysfunction". Amish Lethal Microcephaly. University of Washington, Seattle. https://pubmed.ncbi.nlm.nih.gov/20301539/.
- ↑ "Amish lethal microcephaly". National Center for Advancing Translation Sciences. https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly.
- ↑ "Amish lethal microcephaly". National Library of Medicine. https://medlineplus.gov/genetics/condition/amish-lethal-microcephaly/#frequency.
- ↑ "#607196 - MICROCEPHALY, AMISH TYPE; MCPHA". https://www.omim.org/entry/607196.
- ↑ "Microcephaly, Amish Type (MCPHA)". Weizmann Institute of Science. https://www.malacards.org/card/microcephaly_amish_type.
- ↑ Biesecker, L. G.; Adam, M. P.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Bean LJH; Gripp, K. W.; Amemiya, A. (1993). "Amish Lethal Microcephaly". GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1365/.
- ↑ Kelley, Richard I.; Robinson, Donna; Puffenberger, Erik G.; Strauss, Kevin A.; Morton, D. Holmes (2002). "Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria". American Journal of Medical Genetics 112 (4): 318–326. doi:10.1002/ajmg.10529. PMID 12376931.
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