Table 1.

Background, and BCAAs and AAAs concentrations, and the amino acid ratios of citrin-deficient and control children

	Controls	Citrin-deficient
Number (male/female)	35 (18/17)	20 (12/8)
Background
Ages (years)	8.8 ± 1.4	9.2 ± 2.1
Height (cm): SD score	130.5 ± 9.3:0.06 ± 029	129.0 ± 9.5: −0.55 ± 0.49**
Body weight (kg): SD score	27.8 ± 3.9: −0.02 ± 0.33	24.1 ± 3.6**: −1.01 ± 0.33†
Total protein (mg/dL)	7.1 ± 0.2	6.9 ± 0.3
Albumin (mg/dL)	3.9 ± 0.2	3.8 ± 0.3
Aspartate transaminase (IU/L)	19 ± 3	20 ± 3
Alanine transaminase (IU/L)	21 ± 4	23 ± 3
γ-Glutamyl transpeptitase (IU/L)	15 ± 4	16 ± 3
Total bile acids (μmol/L)	Not determined	7 ± 3
Fasting glucose (mg/dL)	85 ± 5	83 ± 4
Hemoglobin A1c (%)	5.3 ± 0.2	5.1 ± 0.3
Fasting insulin (mU/L)	2.7 ± 2.2	2.5 ± 1.5
Pyruvate (mg/dL)	0.8 ± 0.2	0.8 ± 0.3
Ammonia (mg/dL)	35 ± 5	29 ± 5
Serum BCAAs and AAAs concentrations and the amino acid ratios
BCAAs (μM)	476.1 ± 125.7	615.4 ± 135.4†
AAAs (μM)	157.6 ± 45.3	179.4 ± 40.1
Fisher ratio	3.09 ± 0.52	3.48 ± 0.63*
Thr/Ser	0.71 ± 0.14	0.91 ± 0.25†
Cit/Ser	0.16 ± 0.06	0.27 ± 0.16†
Cit/(Ile + Leu)	0.14 ± 0.05	0.14 ± 0.11
Cit × 100/TAAs	1.00 ± 0.29	1.31 ± 0.71*

Data are presented as mean ± SD. BCAAs, the sum of valine, leucine and isoleucine; AAAs, the sum of phenylalanine and tyrosine; Fisher ratio, BCAAs/AAAs; Thr/Ser, the ratio of threonine to serine; Cit/Ser, the ratio of citrulline to serine; Cit/Ser, the ratio of citrulline to the sum of isoleucine and leucine; Citr × 100/TAAs, the ratio of 100× citrulline to total amino acids (TAAs); TAAs, the sum of 20 amino acids including aspartate, glutamate, histidine, ornithine, lysine, arginine, citrulline, asparagine, serine, threonine, taurine, methionine, proline, glycine, alanine, valine, isoleucine, leucine, tyrocine, and phenylalanine. *P < 0.05, **P < 0.01, †p < 0.001 vs. the controls