Table 2.

Descriptive statistics of clinical data per disease subtype and transplant status.

Variable	MMA subtype/gene name				mut0 subjects transplant status
	mut0/MMUT	mut−/MMUT	cblA/MMAA	cblB/MMAB	Liver ± kidney	Kidney
N	26	6	9	2	13	4
Males	12	4	9	2	7	2
Females	14	2	0	0	6	2
Age	15.2 ± 6.7	6.9 ± 2.5	22.3 ± 14.7	3.7/34.1	19.3 ± 8.7	26.3 ± 10.1
% 1-13C3 metabolized 60 minutes	10.97 ± 5.2 7	31.95 ± 8.25b	34.67 ± 4.37c	8.35/32.75	31.17 ± 7.72c	11.33 ± 1.84
120 minutes	23.47 ± 8.99	44.10 ± 8.95b	50.26 ± 6.45c	16.34/47.22	45.34 ± 9.02c	23.86 ± 3.61
AUC dose metabolized 60 minutes	257.12 ± 123.6	944.11 ± 303.47a	1,000.40 ± 172.28c	191.2/1040	917.01 ± 248.56c	249.40 ± 50.0
120 minutes	1,322.9 ± 568.14	3,289.66 ± 937.84a	3,645.22 ± 477.60c	988.20/3,485.0	3,222.4 ± 730.66c	1,337.50 ± 210.34
Tmax Δ13C (min)	50.52 ± 16.42	25.50 ± 6.89c	22.22 ± 7.12c	40.0/17.0	20.53 ± 12.29c	52.50 ± 15.0
REE (cal)	1,182.84 ± 261.3	816.16 ± 370.96	1,373.44 ± 278.46	609.3/1,653.1	1,351.12 ± 312.62	1,319.13 ± 181.12
REE (cal)/FFM (kg)	49.72 ± 10.48	51.63 ± 8.67	36.71 ± 7.17	na/31.43	41.73 ± 8.69	54.1
Height z-score	−1.86 ± 1.74	−1.31 ± 1.34	−0.39 ± 0.98	−1.94/−1.31	−1.59 ± 0.84	−2.58 ± 1.56
BMI z-score	0.45 ± 1.22	1.03 ± 1.35	−0.51 ± 1.21	1.94/1.67	0.71 ± 1.23	−0.15 ± 1.95
OFC z-score	−0.58 ± 1.46	−0.02 ± 1.47	0.67 ± 1.28	−0.15/0.50	−0.33 ± 1.47	−0.76 ± 1.81
BMD z-score: subtotal	−2.65 ± 1.48	−1.71 ± 0.77	−0.62 ± 1.29	na/−0.50	−1.87 ± 1.30	−4.19
BMD z-score: height corrected, subtotal	−1.27 ± 0.92	−1.01 ± 0.56	0.23 ± 1.71	na/1.09	−0.93 ± 1.22	−1.67
Complete protein intake (%RDA)	80.33 ± 30.45	84.52 ± 14.39	102.43 ± 26.6	49.08/90.91	93.28 ± 33.15	74.87 ± 20.80
FSIQ/ABC	70.6 ± 22.33	89.7 ± 14.88	92.1 ± 14.22a	65/na	69.84 ± 19.68	87.50 ± 22.54
eGFR creatinine (ml/min/1.73 m2)	63.83 ± 34.38	126.22 ± 35.94b	108.19 ± 27.66b	45.96/37.59	65.95 ± 27.93	43.83 ± 26.95
eGFR creat/cyst-C (ml/min/1.73 m2)	56.65 ± 26.59	97.09 ± 11.25c	90.76 ± 13.01c	39.33/36.19	60.78 ± 18.70	43.18 ± 25.57
Serum MMA (μmol/L)	1,604.61 ± 1,220.02	95.59 ± 99.40b	39.26 ± 21.04c	805.0/279.0	459.53 ± 589.85b	3,900.25 ± 5,469.40
Acylcarnitine/free carnitine ratio	3.22 ± 2.27	0.79 ± 0.63b	0.32 ± 0.14c	2.93 − 0.7	0.92 ± 0.36c	2.15 ± 1.6
FGF21 (pg/ml)	5,817.21 ± 7,410.63	1,167.14 ± 1,431.66	319.84 ± 229.31a	19,791.8 − 400.4	1,881.11 ± 2,485.01a	5,739.38 ± 5,313.32
GDF15 (pg/ml)	3,019.07 ± 2,182.89	351.81 ± 199.42	290.25 ± 177.68	na − 1,631.5	1,767.41 ± 1,299.28	2,603.72 ± 2,187.10

A p value of multiple comparisons for FGF21 was <0.05 for the log10 transformed variable, not the absolute values. One-way analysis of variance (ANOVA) and post hoc correction for multiple comparisons by Bonferroni or Tamhane was used depending on the result of Levine’s test of homogeneity of variances, between MMA subtypes and muto and within mut⁰ subtype, between individuals without and with an organ transplant.

AUC area under the curve, BMD bone mineral density measured by dual energy X-ray absorptiometry (DXA) (subtotal refers to BMD of total body minus head), BMI body mass index, eGFR estimated glomerular filtration rate (based on creatinine or combined creatinine and cystatin C values, per the Bedside Schwartz and CKiD 2012 equations), FGF21 fibroblast growth factor 21, FFM fat-free or lean mass (in kilograms), FSIQ full-scale IQ (by age-appropriate cognitive assessment, or ABC score based on Vineland adaptive behavior scales), GDF15 growth differentiation factor 15, MMA methylmalonic acid, OFC occipitofrontal (head) circumference, RDA recommended daily allowance, REE resting energy expenditure (in calories), Tmax time to reach maximum delta of exhaled ¹³CO₂/¹²CO₂.

^aP <  0.05.

^bP <  0.01.

^cP < 0.001.