Table 1.
Summary of the clinical findings of patients with DHTKD1 deficiency
| Patient 1 | Patients 2–4 | Patient 3 (Danhauser et al. 2012) | Patient 4 (Danhauser et al. 2012) | |
|---|---|---|---|---|
| cDNA (NM_018706.5) | c.2143C>T | c.915G>C | c.1A>G | c.1228C>T |
| c.2185G>A | c.915G>C | c.2185G>A | c.2185G>A | |
| Protein (NP_061176) | p.Arg715Cys | p.Gln305His | p.Met1? | p.Arg410* |
| p.Gly729Arg | p.Gln305His | p.Gly729Arg | p.Gly729Arg | |
| Elevated urine/plasma metabolites | + | + | + | + |
| Motor delay | + | − | + | + |
| Speech delay | + | − | + | + |
| Microcephaly | + | − | − | + |
| Hypotonia | − | − | − | + |
| ADHD | + | − | + | − |
| Brain MRI abnormalities | − | N/A | − | − |
| Improvement over time | + | N/A | + | + |
DHTKD1 dehydrogenase E1 and transketolase domain-containing protein 1, ADHD attention deficit hyperactivity disorder, MRI magnetic resonance imaging, N/A not applicable