Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile

Arias, Carolina; Hidalgo, Isabel; Salazar, María Florencia; Cabello, Juan Francisco; Peñaloza, Felipe; Peredo, Pilar; Valiente, Alf; Fuenzalid, Karen; Guerrero, Patricio; Cornej, Verónica

doi:10.1590/2326-4594-JIEMS-2021-0007

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Journal of Inborn Errors of Metabolism and Screening

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Original Article • J. inborn errors metab. screen. 9 • 2021 • https://doi.org/10.1590/2326-4594-JIEMS-2021-0007 copy

Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile

Authorship SCIMAGO INSTITUTIONS RANKINGS

Abstract

Introduction:

Glutaric Aciduria Type 1 (GA-1) is produced by the enzymatic deficiency of glutaryl-CoA-dehydrogenase (GCDH), leading to the accumulation of glutaric acid (GA). 90% of patients without early treatment present acute encephalopathic crisis (AEC), followed by disabling neurological symptoms. The treatment consists of a low lysine (Lys) diet, protein substitute lys-free, tryptophan-reduced (PS) and L-carnitine.

Objectives:

Describe the clinical and nutritional evolution of a cohort of GA-1 patients at a national referral center in Chile.

Methodology:

Retrospective study of 24 patients diagnosed with GA-1 between 1998-2020 and referred to the Institute of Nutrition and Food Technology (INTA) of University of Chile.

Results:

Age at diagnosis was 19±27 months; 10/24 presented AEC and neurological sequelae. The cases without AEC (14/24) 8 presented neurological compromise: psychomotor development delay, abnormal movements and pyramidal syndrome. Nutritional evaluation: 12/24 were malnourished by deficiency, <6 years old group (12/24): 11 cases were found to have Lys and PS, ≥6 years old (12/24): 9/12 did not receive PS. All had normal free carnitine levels.

Conclusion:

GA-1 has variable symptoms with neurological involvement AEC or insidious start. Is essential to maintain a long-term follow-up and consider its inclusion in neonatal screening programs.

Keywords:
Glutaric aciduria type I; encephalopathic crisis; macrocephaly; lysine

Cases	Sex	Age of Dx (month)	Type of Dx	Pre Dx Catabolism	Age of AEC (months)	CS pre Dx	C5DC	OAU
1	M	6	AEC	Infection	12	Macrocephaly, FB, AM	E	E
2	M	15	AEC	Infection	15	Macrocephaly	N	E
3	F	7	AEC	Surgery	6	Macrocephaly	E	E
4	M	21	AEC	Infection	10	Macrocephaly, DPD, AM	E	E
5	M	15	AEC	Infection	7	Macrocephaly, AM	N*	E
6	F	8	AEC	Infection	8	Macrocephaly, AM	E	E
7	F	131	AEC	Infection	10	Asymptomatic	NR	E
8	F	6	AEC	Infection	6	Macrocephaly, DPD	N*	E
9	M	9	AEC	Infection	9	Macrocephaly, AM	N	E
10	M	24	AEC	Surgery	5	Macrocephaly	N*	E

Case	Sex:	Age of Dx (month)	Type of Dx	CSx at Dx	C5DC	OAU
11	M	49	Clinical	DPD, AM	E	E
12	F	17	Clinical	Macrocephaly, FB, DPD, AM	E	E
13	F	15	Clinical	Macrocephaly, FB, DPD, AM	E	E
14	M	6	Clinical	Macrocephaly, FB, DPD	E	E
15	F	0.6	ENS	Macrocephaly, DPD	E	E
16	F	8	Clinical	Macrocephaly, DPD	E	E
17	M	7	Clinical	Macrocephaly, DPD	E	E
18	M	34	Clinical	FB, DPD, AM	E	E
19	M	3	Clinical	Macrocephaly, DPD	E	E
20	M	48	Clinical	Macrocephaly	E	E
21	M	1	Clinical	Macrocephaly	E	E
22	M	8	Clinical	Macrocephaly, DPD, AM	N*	E
23	M	0.5	ENS	Macrocephaly, DPD	E	E
24	F	6	Clinical	Macrocephaly, mild hypotonia	E	E

Case	Age at Start of Tx (month)	Sequelae	Abnormal Mov.	PDP	Pyramidal Syndrome	Epilepsy	Nutritional Status	Swallowing Disorder	PEG
1	6	Yes	Dystonia, oral-lingual dyskinesia	Severe DPD	No	No	O/W	Yes	Yes
2	15	Yes	Dystonia	Severe DPD	Yes	Yes	M	Yes	Yes
3	7	Yes	Dystonia, oral-lingual dyskinesia	Severe DPD	Yes	No	E	Yes	Yes
4	23	Yes	Dystonia, oral-lingual dyskinesia	Severe DPD	Yes	No	M	Yes	Yes
5	17	Yes	Dystonia, oral-lingual dyskinesia	Severe DPD	Yes	Yes	M	Yes	Yes
6	8	Yes	Dystonia, ballism	Severe DPD	Yes	No	E	Yes	Yes
7	132	Yes	Dystonia	Severe DPD	Yes	Yes	M	Yes	Yes
8	6	Yes	Dystonia	Severe DPD	Yes	No	M	Yes	Yes
9	9	Yes	Dystonia	Severe DPD	Yes	No	M	Yes	Yes
10	24	Yes	Dystonia	Severe DPD	Yes	Yes	M	Yes	Yes
11	49	Yes	Dystonia, ataxia	Moderate DPD	No	No	O/W	No	No
12	17	Yes	Dystonia	Mild DPD	No	No	RM	No	No
13	15	Yes	Dystonia	Moderate DPD	Yes	No	M	Yes	Yes
14	7	Yes	Dystonia	Mild DPD	Yes	No	RM	Yes	Yes
15	0.6	Yes	Dystonia	Severe DPD	No	No	E	No	No
16	8	Yes	Dystonia	Mild DPD	No	No	E	No	No
17	21	Yes	No	Moderate DPD	No	No	O/W	No	No
18	34	Yes	Dystonia	Mild DPD	No	No	RM	No	No
19	3	No	No	Normal	No	No	E	No	No
20	48	No	No	Normal	No	No	E	No	No
21	1	No	No	Normal	No	No	RM	No	Yes
22	8	No	No	Normal	No	No	O	No	No
23	0.5	No	No	Normal	No	No	O	No	No
24	7	No	No	Normal	No	No	O/W	No	No

Age	Energy (Kcal/kg/day)	Lysine (mg/kg/day)	PS (gr/kg/day)	Intact Protein (gr/kg/day)	Iron % adequacy	Calcium % adequacy	Zinc % adequacy
7-12 months (n:1)	95 (R:80)	92 (R:90)	0.9 (R:0.8-1)	---	66 (R:≥100)	162 (R:≥100)	217 (R:≥100)
1-3 years (n:7)	99±48 (R:81-94)	76±7 (R:60-80)	0.9±0.1 (R:0.8)	---	108±64 (R:≥100)	99±30 (R:≥100)	139±67 (R:≥100)
4-6 years (n:4)	52±15 (R:63-86)	47±12 (R:50-60)	0.9±0.2 (R:0.8)	---	126±33 (R:≥100)	81±23 (R:≥100)	100±36 (R:≥100)
6-10 years (n:7)	77±55 (R:66±5)	---	---	0.8±0.2 (R:0.9)	140±101 (R:≥100)	109±48 (R:≥100)	86±57 (R:≥100)
>11 years (n:5)	58±34 (R:54±3)	---	---	0.9±0.1 (R:0.9)	104±55 (R:≥100)	88±38 (R:≥100)	60±20 (R:≥100)

Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) Rua Ramiro Barcelos, 2350, CEP: 90035-903, Porto Alegre, RS - Brasil, Tel.: 55-51-3359-6338, Fax: 55-51-3359-8010 - Porto Alegre - RS - Brazil
E-mail: rgiugliani@hcpa.edu.br

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[1] Corresponding Author:
Carolina Arias, Email: carias@inta.uchile.cl