Table 1. Characteristics of HMGCL deficiency in 17 Saudi patients with hepatic manifestations.
| Demographic and clinical data at presentation | Hepatobiliary finding | Outcome | Diagnostic tests | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age (d) | Gender (F, M) | Region | Hypoglycemia | Acidosis | Seizure | Hypocalcemia | Coma | Hepatomegaly | High transaminase | Fatty liver by US | Performed liver biopsy | Multiple gallstones by US | Last follow-up age (y) | Epilepsy | White matter changes by brain MRI | Abnormal EEG | Learning disability | ADHD | Short stature | Positive tandem mass spectrometry | Positive organic acid | Molecular genotype |
| 2 | F | North | + | + | − | − | − | − | + | + | − | − | 14 | − | + | + | + | + | − | + | + | c.206_207delCT (p.Ser69Cysfs*11) |
| 48 | M | Central | − | − | − | − | − | − | + | − | − | − | 15 | + | − | + | − | − | − | + | + | NA |
| 7 | M | Central | + | + | + | + | − | + | − | + | − | − | 19 | + | − | + | − | − | − | + | + | c.122G > A (p.Arg41Gln) |
| 168 | F | Central | + | + | − | − | − | − | − | + | − | + | 21 | − | + | − | + | − | − | + | + | c.122G > A (p.Arg41Gln) |
| 280 | M | Central | + | + | − | − | + | + | − | − | − | − | 17 | − | − | − | − | − | − | − | + | c.122G > A (p.Arg41Gln) |
| 252 | M | South | + | + | − | − | − | + | + | − | − | − | 21 | + | − | − | − | − | − | + | + | c.206_207delCT (p.Ser69Cysfs*11) |
| 56 | F | Central | − | + | − | − | − | + | − | + | − | − | 28 | + | + | − | − | − | − | + | + | NA |
| 308 | F | Central | + | + | − | − | − | + | + | + | − | − | 19 | − | − | − | − | − | − | + | + | NA |
| 224 | F | Eastern | − | + | − | + | − | + | − | − | − | + | 21 | + | + | − | + | − | − | + | + | c.914_915delTT (p.Phe305Tyrfs*10) |
| 315 | M | Central | + | + | + | − | + | + | − | − | − | − | 23 | + | + | − | − | − | − | + | + | c.122G > A (p.Arg41Gln) |
| 56 | F | Central | − | + | − | − | − | − | − | − | − | − | 16 | − | − | − | + | + | − | + | + | NA |
| 168 | F | Central | + | + | − | − | + | + | + | − | − | − | 13 | + | − | − | − | − | + | + | + | c.122G > A (p.Arg41Gln) |
| 14 | M | Western | + | + | − | − | − | + | + | − | − | − | 10 | + | − | + | + | − | − | + | + | c.122G > A (p.Arg41Gln) |
| 49 | M | Central | + | + | − | − | − | + | + | + | − | − | 13 | − | − | − | + | + | + | + | + | c.122G > A (p.Arg41Gln) |
| 21 | M | South | − | − | − | − | − | − | − | + | − | + | 7 | − | − | − | − | − | − | + | + | c.122G > A (p.Arg41Gln) |
| 56 | F | Central | − | + | − | − | − | − | − | + | − | − | 19 | + | − | − | + | − | − | + | + | c.122G > A (p.Arg41Gln) |
| 280 | F | Central | + | + | − | − | − | + | + | + | + | − | 22 | − | − | − | − | − | − | + | + | c.122G > A (p.Arg41Gln) |
Abbreviations: ADHD, attention-deficit/hyperactivity disorder; EEG, electroencephalogram; F, female; HMGCL, 3-hydroxy-3-methylglutaryl-coenzyme-A lyase; M, male; MRI, magnetic resonance imaging; NA, not available; US, ultrasound.