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Table 1 Urine organic acid profiles and genetic mutations reported for individuals with HMG-CoA synthase deficiency

From: Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report

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
  1. ↑↑↑ = highly elevated, ↑↑ = moderately elevated, ↑ = slightly elevated
  2. C0 = free carnitine, C2 = acetylcarnitine, C4 = butyrylcarnitine, C4-OH = 3-hydroxybutyrylcarnitine