Table 2.
Patient characteristics and demographics
| Patient number | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 |
|---|---|---|---|---|---|---|---|---|---|---|
| Age at start of study, years | 1.2 | 9.8 | 5.7 | 2.3 | 2.3 | 5.5 | 3.8 | 4.5 | 12.8 | 9.5 |
| Sex | Male | Female | Male | Male | Female | Female | Male | Male | Male | Male |
| Diagnosis | MMA | MMA | MMA | MMA | PA | PA | PA | PA | PA | PA |
| Gene affected | MUT | MUT | MUT | MUT | PCCA | PCCA | PCCB | PCCB | NR | PCCA |
| Genetic mutation | Nonsense mutation | Homozygous mutation | Homozygous p. Tyr231* | c.1420C>T | Homozygous deletion of exons 23, 24 | Homozygous deletion of exon 7 | Homozygous p.Gly407Argfs*14 | Homozygous c.1498 + 2T>C | PCCA1 homozygous | Homozygous p. Arg313* |
| Time of diagnosis | Neonatal | Neonatal | Neonatal | Neonatal | Neonatal | Neonatal | Neonatal | Neonatal | Infant | Neonatal |
| Complications at diagnosis | ||||||||||
| Axial hypotonia | ✔ | |||||||||
| Basal ganglia lesions | ✔ | |||||||||
| Coma | ✔ | |||||||||
| Encephalopathy | ✔ | ✔ | ✔ | ✔ | ✔ | ✔ | ||||
| Hypotonia | ✔ | |||||||||
| Liver damage (jaundice) | ✔ | |||||||||
| Metabolic acidosis | ✔ | |||||||||
| Metabolic stroke | ✔ | |||||||||
| Movement disorders | ✔ | |||||||||
| Pancytopenia | ✔ | |||||||||
| PDA | ✔ | |||||||||
| Renal damage | ✔ | |||||||||
| Respiratory distress | ✔ | ✔ | ||||||||
| RSV bronchiolitis | ✔ | |||||||||
| Seizures | ✔ | |||||||||
| Sepsis | ✔ | |||||||||
| Vomiting | ✔ | |||||||||
| Complications after diagnosis | ||||||||||
| Dystonia | ✔ | |||||||||
| Intellectual disability | ✔ |
Arg arginine, C cytosine, Gly glycine, MMA methylmalonic aciduria, MUT methylmalonyl CoA mutase, NR not reported, PA propionic aciduria, PCCA propionyl-CoA carboxylase subunit alpha, PCCB propionyl-CoA carboxylase subunit beta, PDA small patent ductus arteriosus, RSV respiratory syncytial virus, T thymine, Tyr tyrosine
No patients were vitamin B12 responsive