METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA

Nogueira, Zeni Drubi; Boa-Sorte, Ney; Leite, Maria Efigênia de Queiroz; Toralles, Maria Betânia Pereira; Amorim, Tatiana

doi:10.1590/1984-0462/2021/39/2020095

Acessibilidade / Reportar erro

Brasil

Revista Paulista de Pediatria

Español English

Brasil

Español English

sumário « anterior atual seguinte »

Sumário

ORIGINAL ARTICLE • Rev. paul. pediatr. 39 • 2021 • https://doi.org/10.1590/1984-0462/2021/39/2020095 copy

METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Objective:

To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period.

Methods:

This cohort study collected retrospective data of 53 phenylketonuric children and adolescents. Data on family income, housing, and mother’s age and schooling level were collected, and anthropometric measures of body composition and distribution were taken. All dosages of phenylalanine (Phe) from the last five years (2015-2019) were evaluated and classified regarding their adequacy (cutoffs: 0-12 years: 2-6 mg/dL; 12-19 years: 2-10 mg/dL). Adequate metabolic control was considered if ≥7%) of the dosages were within desired ranges.

Results:

The mean (±standard deviation) age in the last year was 10.1±4.6 years. Most of them were under 12 years old (33/53; 62.3%) and had the classic form of the disease (39/53; 73.6%). Better metabolic control was observed among adolescents (68.4 versus 51.4%; p=0.019). Overweight was found in 9/53 (17%) and higher serum Phe levels (p<0.001) were found in this group of patients. Metabolic control with 70% or more Phe level adequacy decreased along with the arm muscle area (AMA) (p_tendency=0.042), being 70.0% among those with low reserve (low AMA), and 18.5% among those with excessive reserve (high AMA).

Conclusions:

Adequate metabolic control was observed in most patients. The findings suggest that, in this sample, the levels of phenylalanine may be related to changes in body composition.

Keywords:
Metabolism, inborn errors; Phenylketonurias; Nutritional status; Body composition

	All Phe dosages (mg/dL)						Adequate metabolic control ≥70%
	n (%)	Mean (SD)	p-value	Age range (years old)				n (%)	p-value	Age range (years old)
				0-12	12-19	p-value^a	Total			0-12	12-19	p-value^a
				Mean (SD)	Mean (SD)	p-value^a	n (%)			n (%)	n (%)	p-value^a
General	2.242 (100.0)	6.0 (3.5)		5.6 (3.3)	7.2 (4.0)	<0.001	53	21 (39.6)		8 (38.1)	13 (61.9)	0.004
Sex
Female	1,387	6.1 (3.5)	0.011	5.6 (3.2)	7.5 (3.7)	<0.001	34 (64.1)	14 (41.2)	0.757	5 (35.7)	9 (64.3)	0.035
Male	855	7.8 (3.6)	0.011	5.6 (3.4)	6.5 (5.7)	0.007	19 (35.9)	07 (36.8)	0.757	3 (42.9)	4 (57.1)	0.129^b
Type of PKU
Classic	1,659	6.7 (3.7)	<0.001	6.4 (3.5)	7.5 (4.0)	<0.001	39 (73.6)	13 (33.3)	0.118	2 (15.4)	11 (84.6)	0.002^b
Mild	583	4.0 (2.0)	<0.001	4.0 (2.0)	3.8 (1.1)	0.708	14 (26.4)	08 (57.1)	0.118	6 (75.0)	2 (25.0)	0.473^b
Family minimum wage (MW)
Less than 1 MW	892	6.7 (4.0)	<0.001	6.0 (3.4)	8.2 (4.6)	<0.001	23 (48.9)	06 (26.1)	0.159	1 (16.7)	5 (83.3)	0.069^b
1 MW or more	1,088	5.6 (3.1)	<0.001	5.5 (3.2)	6.1 (2.5)	0.010	24 (51.1)	11 (45.8)	0.159	5 (45.4)	6 (54.6)	0.023
Maternal age (in 2019)
Until 39	1,099	5.5 (3.2)	<0.001	5.6 (3.3)	3.7 (1.0)	<0.001	27 (50.9)	9 (33.3)	0.340	7 (77.8)	2 (22.2)	0.103^b
40 or more	1,143	6.4 (3.7)	<0.001	5.5 (3.3)	7.6 (4.0)	<0.001	26 (49.1)	12 (46.1)	0.340	1 (8.3)	11 (91.7)	0.036^b
Maternal schooling
≤5 years	518	5.8 (3.1)	0.006	5.8 (3.4)	5.7 (2.7)	0.927	12 (25.5)	06 (50.0)	0.176	-	6 (100)	0.061^b
>5 years	1,470	6.2 (3.7)	0.006	5.7 (3.3)	9.1 (4.5)	<0.001	35 (74.5)	10 (28.6)	0.176	6 (60.0)	4 (40.0)	0.221^b
Place of residence
Rural area	991	6.3 (3.6)	0.053	5.8 (3.3)	7.9 (4.2)	<0.001	23 (48.9)	08 (34.8)	0.627	3 (37.5)	5 (62.5)	0.179^b
Urban area	1,000	5.8 (3.4)	0.053	5.3 (3.1)	7.1 (3.8)	<0.001	24 (51.1)	10 (41.7)	0.627	3 (30.0)	7 (70.0)	0.017^b

	n (%)	Age range (years old)			Serum of phenylalanine (mg/dL)		Metabolic control ≥70%
		0-12	12-19	p-value	Mean (SD)	p-value	n (%)	p-value
		n (%)	n (%)	p-value	Mean (SD)	p-value	n (%)	p-value
BMI/H (n=53)				0.832		<0.001*	21 (39.6)	0.881*
Thinness	02 (3.8)	1 (50.0)	1 (50.0)		3.7 (2.1)^a		1 (50.0)
Eutrophy	42 (79.2)	27 (64.3)	15 (35.7)		5.9 (3.4)^b	<0.001^a.b	17 (40.5)
Excess	09 (17.0)	5 (55.6)	4 (44.4)		6.9 (3.9)^c	<0.001^a.c/b.c	3 (33.3)
Body composition
TST/H (n=52)				0.714		<0.001*	20 (38.5)	0.430*
Low reserve	13 (25.0)	9 (69.2)	4 (30.8)		4.9 (3.0)^a		6 (46.1)
Adequate	33 (63.5)	20 (60.6)	13 (39.4)		6 (3.5)^b	<0.001ª^.b	13 (39.4)
Excess	06 (11.5)	3 (50.0)	3 (50.0)		8.4 (3.6)^c	<0.001^a.c/b.c	1 (16.7)
SS/H (n=52)				0.465		<0.001*	21 (40.4)
Low reserve	10 (19.2)	7 (70.0)	3 (30.0)		5 (3.2)^a		4 (40.0)	0.884*
Adequate	33 (63.5)	19 (57.6)	14 (42.4)		6 (3.5)^b	<0.001^a.b	14 (42.4)
Excess	09 (17.3)	7 (77.8)	2 (22.2)		6.4 (3.0)^c	<0.001^a.c	3 (33.3)
TST+SS (n=49)				0.490		<0.001*	19 (38.8)	0.808**
Low reserve	13 (26.5)	9 (69.2)	4 (30.8)		5.1 (3.1)^a		6 (46.1)
Adequate	30 (61.2)	18 (60.0)	12 (40.0)		5.9 (3.2)^b	<0.001^a.b	11 (36.7)
Excess	06 (12.3)	5 (83.3)	1 (16.7)		6.5 (3.2)^c	<0.001^a.c/b.c	2 (33.3)
AMA (n=52)				0.134		<0.001*	20 (38.5)	0.042**
Low reserve	10 (19.2)	4 (40.0)	6 (60.0)		5.1 (2.7)^a		7 (70.0)
Adequate	31 (59.6)	19 (61.3)	12 (38.7)		6.3 (3.6)^b	<0.001^a.b	11 (35.5)
Above average	11 (21.2)	9 (81.8)	2 (18.2)		6.1 (4.0)^c	<0.001^a.c	2 (18.2)

Sociedade de Pediatria de São Paulo R. Maria Figueiredo, 595 - 10o andar, 04002-003 São Paulo - SP - Brasil, Tel./Fax: (11 55) 3284-0308; 3289-9809; 3284-0051 - São Paulo - SP - Brazil
E-mail: rpp@spsp.org.br

Acompanhe os números deste periódico no seu leitor de RSS

[1] *Corresponding author. zeninogueira@gmail.com (Z.D. Nogueira).

	All	0-12 years old	12-19 years old	p-value
	n (%)	n (%)	n (%)	p-value
Phenylalanine (mg/dL)
Number of dosages	2.242	1.704	538	<0.001
Mean (SD)	6.0 (3.5)	5.6 (3.3)	7.2 (4.0)
Median (p25-p75)	5.4 (3.5-7.7)	5.0 (3.3-7.2)	6.8 (4.5-9.0)
Classification
Below the threshold	174 (7.8)	161 (9.4)	13 (2.4)	<0.001
On the threshold	1.348 (60.1)	920 (54.0)	428 (79.6)
Above the threshold	720 (32.1)	623 (36.6)	97 (18.0)
Adequate dosages (%)
Average	57.8	51.4	68.4	0.019
Min-Max	2.5-100	4.5-92.2	2.5-100.0	0.019
Metabolic control 50%
Yes	34 (64.2)	18 (54.5)	16 (80.0)	0.080^a
No	19 (35.8)	15 (45.5)	04 (20.0)	0.080^a
Metabolic control 70%
Yes	21 (39.6)	08 (24.2)	13 (65.0)	0.003
No	32 (60.4)	25 (75.8)	07 (35.0)	0.003
Metabolic control 90%
Yes	04 (7.6)	01 (3.0)	03 (15.0)	0.145^a
No	49 (92.4)	32 (97.0)	17 (85.0)	0.145^a