Table 1.
Clinical and biochemical characteristics of Korean IVA patients
| Patient | Sex/ age |
Age at diagnosis |
Symptoms onset |
Growth retardation |
Developmental delay |
Sweaty foot odor |
C5-Acyl- carnitinea |
Urine isovaleryl- glycineb |
Plasma isovaleryl- carnitinec |
Identified IVD gene mutations |
|---|---|---|---|---|---|---|---|---|---|---|
| PHBd | M/15 yr | 8 yr | 10 days | − | + | + | ND | 2962.8 | ND | c.144+1G>T homozygote |
| PHId | M/11 yr | 4 yr | 5 days | − | + | + | ND | 9010.0 | ND | c.144+1G>T homozygote |
| PHJ | M/5yr | 7 days | − | − | − | − | 33.8 | 1608.2 | 7.70 (<1.4) | Ser249Gly/Phe350Val |
| CSJ | M/15 m | 1 m | − | − | − | − | NI | 465.3 | 7.97 (<1.2) | Ser249Gly/Phe350Val |
| OMK | F/16 m | 22 days | 10 days | − | + | + | 4.75 | 469.9 | ND | c.457-3_2CA>GG homozygote |
| BHJ | M/7 yr | 3 yr | 5 days | − | + | + | ND | 5351.2 | 6.40 (<0.56) | c.457-3_2CA>GG homozygote |
| YJH | M/32 m | 15 days | 7 days | − | − | + | NI | 9212.9 | 7.78 (<0.33) | Arg21Leu/c.457-3_2CA>GG |
Abbreviations used: ND, not done; NI, not informed.
a
NBS blood spots, reference range: <1.2 µmol/L.
b
Reference range: 0.2–10.1 mmol/mol creatinine.
c
Reference range (nmol/mL) is in parentheses.
d
Patients PHB and PHI are brothers.