Case51: 3 wks (at biopsy), Irish/Italian

CasePresentingHPOs: metabolic acidosis-severe, methylmalonic acidemia-mild, lactic acidosis, sensorineural hearing loss (HP:0001942, HP:0002912, HP:0003128, HP:0000407)

Case 51 (Level 2)

CasePreviousTesting: same as group. found 1.0 nmol/mg protein/18 h propionate incorporation, 0.9 nmol/mg/protein/18 h propionate incorporation with hydroxocobalamin supplementation

CaseMethod1: same as group

CaseMethod2: same as group

CaseGenotypingMethod: same as group

Variant1: NM_003849.3:c.433G>A (p.Glu145Lys)

ClinVar: n/a

CAID: CA347515756

gnomAD: 0.00001761 (European non-Finnish)

Variant2: NM_003849.3:c.511A>C (p.Asn171His)

ClinVar: n/a

CAID: CA347515593

gnomAD: n/a

CaseAddInfo: Originally identified as mut0 type patient through somatic cell complementation. But NGS instead identified two novel heterozygous mutations in the SUCLG1 gene (detailed above). Mutations are likely causative of patient's phenotype.