Table 1 Urine organic acid profiles and genetic mutations reported for individuals with HMG-CoA synthase deficiency
Study | Plasma acylcarnitines | Urinary organic acids | HMGCS2 mutation | Prognosis |
|---|---|---|---|---|
Thompson et al. (1997) [5] | Normal | Normal | Exon 2, 520 T > C, homozygous | Improved |
Morris et al. (1998) [12] | Normal | Dicarboxylic aciduria | Exon 7, c.1270C > T, homozygous | Improved |
Aledo et al. (2001) [13] | Normal | Dicarboxylic aciduria without adequate ketonuria | Exon 3, c.634G > A Exon 9, c.1499G > A | Improved |
Zschocke et al. (2002) [7] | Normal | nonspecific | Exon 3, c.634G > A Intron 5, IVS5 + 1 g > a | Improved |
Wolf et al. (2003) [8] | Normal | Dicarboxylic aciduria | Exon 2, c.160G > A Exon 2, c.500A > G | Improved |
Aledo et al. (2006) [9] | C0↓, C2↑ | Dicarboxylic aciduria | c.614G > A c.971 T > C | Improved |
Ramos et al. (2013) [14] | Normal | Ketonuria with dicarboxylic aciduria | Exon 6, c.1162G > A, Exon 7, c.1270C > T | Improved |
Conboy et al. (2017) [3] | C2↑↑↑ | Glutaric acid↑↑↑, adipic acid ↑↑↑, 4-hydroxyphenyl lactate↑, 4-hydroxyphenyl pyruvate↑ | c.409A > T c.1141A > G | Improved, but profound developmental delay |
Ma Dan, Yu Dan (2018) [4] | Not mentioned | Glutaric acid↑↑↑, dicarboxylic aciduria | Exon 9, c.1502G > A, homozygous | Improved |
Present report | C2↑↑↑, C4↑, C4-OH↑↑↑ | 3-hydroxybutyric acid↑↑↑, glutaric acid↑↑↑, adipic acid ↑↑↑, glycerol↑↑↑, 4-hydroxyphenyllactate↑↑, 4-hydroxyphenyl pyruvate↑ | Exon 1, c.100C > T Exon 9, c.1465del A | Death |