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| Genomic newborn screening: ICoNS v1.12 | ACAT1 |
Lilian Rudd gene: ACAT1 was added gene: ACAT1 was added to Genomic newborn screening: ICoNS. Sources: Expert List Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760 Added comment: Well established gene-disease association. DEFINITIVE by ClinGen. Childhood onset, presents with metabolic acidosis. Non-genetic confirmatory testing: urine organic acids, plasma acylcarnitine profile Treatment: avoid fasting, carnitine, riboflavin, protein restricted diet Sources: Expert List |
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