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ALLMedicine™ Amish Lethal Microcephaly Center

Research & Reviews  6 results

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and...
Journal of Pediatric Endocrinology & Metabolism : JPEM; Porta F, Siri B et. al.

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...

Amish Lethal Microcephaly - GeneReviews® - NCBI Bookshelf

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...

Defects of thiamine transport and metabolism.
Journal of Inherited Metabolic Disease; Brown G

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...

Mitochondrial uptake of thiamin pyrophosphate: physiological and cell biological aspects.
PloS One; Subramanian VS, Nabokina SM et. al.

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...

Amish lethal microcephaly

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...

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