Exercise Stress Testing in Children with Metabolic or Neuromuscular Disorders

Table 1

Cardiopulmonary measurements of patients during the CPET.

Patient	Diagnosis	Determination; of diagnosis	Age (years)	Sex	Weight; (kg)	BMI (Z-score)	HRpeak; (beats/min)	RERpeak	VO2peak; (L/min); (Z-score)	VO2peak /kg; (mL/min/kg); (Z-score)
1	GSD-1a	Mutation R570X en delta F327	11.9	M	40	19.3; (0.88)	205	1.16	1.99; (−0.04)	49.7; (−0.42)
2	GSD-III	Debranching enzyme deficiency in leucocytes	11.9	F	39	19.6; (0.71)	182	0.92^∗	1.45; (−1.5)	37.1; (−1.5)
3	GSD-7	Phosphofructokinase deficiency in muscle	12.9	M	32	13.1; (−3.7)	184	1.0	1.78; (−3.55)	34.6; (−3.24)
4	MCAD	MCAD deficiency in leucocytes homozygous Lys329Glu mutation	5.4	F	28	19.4; (1.98)	134	0.92^∗	0.55; (−3.5)	19.5; (−4.2)
5	MCAD	MCAD deficiency in leucocytes	11.4	F	42	18.9; (0.59)	NA	NA	NA	NA
6	SCAD	SCAD deficiency in leucocytes and fibroblasts; mutation	7.0	M	25	14.6; (0.70)	173	1.05	1.00; (−0.86)	40.1; (−1.9)
7	MADD	MADD deficiency in fibroblasts	10.2	M	33	16.1; (−0.23)	195	1.25	1.33; (−1.1)	40.4; (−1.8)
8	MADD	MADD deficiency in fibroblasts	8.6	M	25	14.1; (−1.35)	180	1.21	1.29; (0.09)	51.5; (−0.26)
9	2-Methylacetoacetyl-CoA-thiolase deficiency	2-Methylacetoacetyl-CoA-thiolase deficiency in fibroblasts	8.7	M	30	15.5; (−0.32)	179	1.20	1.30; (−0.69)	43.5; (−1.4)
10	Mitochondrial respiratory chain myopathy	Diminished ATP production in fresh muscle biopsy	9.7	M	34	16.9; (0.30)	152	1.39	0.63; (−3.6)	18.5; (−5.0)
11	M. Becker dystrophinopathy	Duplication exon 24-29 dystrophin gene	10.4	M	25	12.4; (−3.6)	NA	NA	NA	NA
12	M. Becker dystrophinopathy	Duplication exon 24-29 dystrophin gene	14.8	M	57	18.6; (−0.22)	202	1.26	1.57; (1.7)	62.6; (2.7)
13	Hypokalemic episodic paralysis	Arg1239His mutation in CACNA1S-gene	13.8	F	62	24.5; (1.63)	218	1.25	1.20; (−2.0)	19.4; (−4.0)

Abbreviations: BMI: Body Mass Index, HR_peak: peak heart rate, VO_2peak: peak O₂ uptake, RER_peak: peak respiratory exchange ratio, ∗: significantly different from normal, NA: not assessed.