ALLMedicine™ Alacrima Center

Jul 6th, 2021 - Background Alacrima refers to a wide spectrum of lacrimal secretory disorders that are mostly congenital in origin. Symptoms of these disorders can range from a complete absence of tears to hyposecretion of tears; symptoms of rarer disorders inclu...

Mar 24th, 2021 - GDP-mannose-pyrophosphorylase-B (GMPPB) facilitates the generation of GDP-mannose, a sugar donor required for glycosylation. GMPPB defects cause muscle disease due to hypoglycosylation of α-dystroglycan (α-DG). Alpha-DG is part of a protein comple...

Mar 15th, 2021 - Background Allgrove syndrome or Triple A (AAA) syndrome (online mendelian inheritance in man [OMIM] number 231550) is a rare autosomal recessive disease characterized by alacrima, achalasia of the esophageal cardia, and adrenal failure first descr...

May 20th, 2020 - Acquired unilateral alacrima as a presenting sign of an intracranial tumor is exceptionally rare, and only described once previously in a case of nasopharyngeal carcinoma. The authors present a 32-year-old female patient who presents with a year-l...

Apr 8th, 2020 - N-glycanase 1 (NGLY1) deficiency, an autosomal recessive disease caused by mutations in the NGLY1 gene, is characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, movement disorders and other neurological p...

Mar 6th, 2009 - The AAAS gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients have been known to show alacrima (decreased secretion of tears). However, the...