Case52: 3 wks (at biopsy), Irish/Italian

CasePresentingHPOs: methylmalonic acidemia (HP:0002912)

HPOsFreeText: SIDS, elevation in C3 carnitine (post mortem blood spot)

Case 52 (Level 2)

CasePreviousTesting: same as group. found 2.0 nmol/mg protein/18 h propionate incorporation, 2.3 nmol/mg/protein/18 h propionate incorporation with hydroxocobalamin supplementation

CaseMethod1: same as group

CaseMethod2: same as group

CaseGenotypingMethod: same as group

Variant1: NM_001177599.1:c.273A>T (p.Arg91Ser)

ClinVar: n/a

CAID: CA353555085

gnomAD: n/a

CaseAddInfo: Originally identified as mut0 type patient through somatic cell complementation. But NGS instead identified a novel heterozygous mutation in SUCLG2. Unknown relevance of variant to patient's phenotype.