Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Table 1 Relevant plasma, urinary and CSF amino acids and urinary organic acid levels

	At presentation		Patient follow-up through age 4 years
	(age 18 months)		Patient follow-up through age 4 years
Plasma (μmol/L)	Patient	Reference interval	Patient	Patient
			Median	Range
Glutamate	119	2 - 118	97.5	60 – 241
Glutamine	1228	334 - 666	820	615 – 1381
Proline	441	61 - 285	417.5	179 – 576
Glycine	144	149 - 301	263.5	144 – 356
Alanine	470	134 - 502	455	221 – 1086
Valine	64	158 - 310	128	32 – 155
Isoleucine	21	37 - 89	39.5	7 – 51
Leucine	45	68 - 168	67.5	15 – 76
Lysine	52	113 - 269	180.5	142 – 326
*CSF (μmol/L)*
Glutamate	0	ND
Glutamine	723	352 - 885
Glycine	5	1 - 16
Alanine	52	6 - 47
*Urine (μmol/mmol of creatinine)*
Glutamate	2	<11
Glutamine	603	62 - 165
Glycine	229	110 - 356
Alanine	239	41 - 130
α-ketoglutarate	6224	<79
Llactate	252	<52
Succinate	15	<97
Fumarate	48	<7

Reference intervals are provided as the range of the age-matched reference population. Median and range of plasma amino acid values are also provided for the patient samples (N = 8) collected during follow-up.

ISSN: 1750-1172