Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV000494711 | SCV002020067 | pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2019-07-03 | criteria provided, single submitter | clinical testing | |
Yoda Diagnostics Pvt Ltd, |
RCV000494711 | SCV000537857 | pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | no assertion criteria provided | research | Observed in a female patient who developed severe respiratory distress due to severe metabolic acidosis. Serum lactate, transaminases and serum bilirubin elevated. Subsequent follow up at 15 months of age revealed gross psychomotor delay with dystonia with urine organic acid analysis showing 7-fold increase in methylglutaconic acid and 2-fold increase in 3-methyl glutaric acid levels. The patient was re-evaluated at 7 years of age. At this age, the patient manifested seizures, generalized dystonia, failure to thrive, swallowing difficulty, spasticity and flexion contractures. | |
OMIM | RCV000494711 | SCV002016240 | pathogenic | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 2021-11-17 | no assertion criteria provided | literature only |