ALLMedicine™ Amish Lethal Microcephaly Center

Feb 6th, 2021 - Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly. The se...

Dec 7th, 2017 - Amish lethal microcephaly is characterized by severe congenital microcephaly and highly elevated 2-ketoglutarate or lactic acidosis. The occipitofrontal circumference is typically more than two standard deviations (occasionally >6 SD) below the me...

May 3rd, 2014 - Thiamine, in the form of thiamine pyrophosphate, is a cofactor for a number of enzymes which play important roles in energy metabolism. Although dietary thiamine deficiency states have long been recognised, it is only relatively recently that inhe...

Sep 12th, 2013 - Mammalian cells obtain vitamin B1 (thiamin) from their surrounding environment and convert it to thiamin pyrophosphate (TPP) in the cytoplasm. Most of TPP is then transported into the mitochondria via a carrier-mediated process that involves the m...

Dec 1st, 2010 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99742 Definition A very rare syndrome characterized by extreme microcephaly and early death, within the first year...