Amish lethal microcephaly

Amish lethal microcephaly
Other names	Microcephaly, Amish type [1]
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

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