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BabyScreen+ newborn screening v1.1 DLAT Zornitza Stark Tag treatable tag was added to gene: DLAT.
Tag metabolic tag was added to gene: DLAT.
BabyScreen+ newborn screening v0.2173 DLAT Zornitza Stark Marked gene: DLAT as ready
BabyScreen+ newborn screening v0.2173 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2173 DLAT Zornitza Stark Classified gene: DLAT as Green List (high evidence)
BabyScreen+ newborn screening v0.2173 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v0.2172 DLAT Zornitza Stark gene: DLAT was added
gene: DLAT was added to Baby Screen+ newborn screening. Sources: Expert Review
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency, MIM# 245348
Review for gene: DLAT was set to GREEN
Added comment: Well established gene-disease association.

Clinical presentation is in infancy.

Treatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine

Non-genetic confirmatory testing: enzymology

Included for consistency with PDHA1/PDHX
Sources: Expert Review