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| Miscellaneous Metabolic Disorders v1.50 | GLYAT | Zornitza Stark Marked gene: GLYAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.50 | GLYAT | Zornitza Stark Gene: glyat has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.50 | GLYAT |
Zornitza Stark gene: GLYAT was added gene: GLYAT was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: GLYAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLYAT were set to 40747359 Phenotypes for gene: GLYAT were set to Neurodevelopmental disorder, MONDO:0700092, GLYAT-related Review for gene: GLYAT was set to RED Added comment: Single individual reported with homozygous LoF variant, p.Q108Ter. The individual was treated with pantothenic acid and a mitochondrial cocktail consisting of coenzyme Q10, vitamins B1, B2, B6, B12, C, folate, and carnitine, together with a low-protein diet, which led to the alleviation of oedema and hypotonia and an improvement in her motor function and social interactions. Her serum glycine level was also normalized. Sources: Literature |
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