Last update: June 10, 2018

Glutaric aciduria type 1

Low Risk for breastfeeding


Moderately safe. Probably compatible.
Mild risk possible. Follow up recommended.
Read the Comment.

A congenital metabolism disorder of autosomal recessive inheritance, caused by homozygous mutation or heterozygous compounds that encode the glutaryl-CoA dehydrogenase gene (GCDH; 608801) located on chromosome 19p13 (OMIM 2017).

The deficiency of the glutaryl-CoA dehydrogenase enzyme produces a failure in the metabolic degradation of certain proteins with accumulation of intermediates such as lysine, hydroxylysine, tryptophan and glutaric acid that are excreted abundantly in urine. There is acylcarnitine deficiency. Neuronal damage occurs, especially in the basal ganglia, with the appearance of these symptoms in the first year of life: macrocephaly, cerebral atrophy, muscular hypotonia and hypertonia, spasms and delayed psychomotor development (Hendlund 2006). There may be subdural hematomas which may be mistaken for child mistreatment (Vester 2016).

Experts agree that breastfeeding is possible, carrying out checks by specialized professionals, who generally combine it with formulas devoid of lysine and low in tryptophan and carnitine addition (BIMDG 2015, Kölker 2011, Gokcay 2006, Huner 2005).

An infant with GA1 was breastfed on demand until 5 months of age and remained asymptomatic (Huner 2005). Another infant, diagnosed at two months after presenting macrocephaly, was breastfed up to 6 months without neurological involvement during that time and a third infant diagnosed at 6 months after presenting with coma and loss of neurological abilities was breastfed until 11 months (Gokcay 2006).

Suggestions made at e-lactancia are done by APILAM´s pediatricians and pharmacists, and are based on updated scientific publications.
It is not intended to replace the relationship you have with your doctor but to compound it.

Jose Maria Paricio, Founder & President of APILAM/e-Lactancia

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Thank you for helping to protect and promote breastfeeding.

José María Paricio, founder of e-lactancia.

Other names

Glutaric aciduria type 1 is also known as Infant glutaric acidemia type 1. Here it is a list of alternative known names::


Glutaric aciduria type 1 in other languages or writings:

Group

Glutaric aciduria type 1 belongs to this group or family:

References

  1. OMIM - Online Mendelian Inheritance in Man. Glutaric acidemia I (GA1) 2017 Full text (link to original source) Full text (in our servers)
  2. Vester ME, Visser G, Wijburg FA, van Spronsen FJ, Williams M, van Rijn RR. Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients. Eur J Pediatr. 2016 Abstract
  3. BIMDG - British Inherited Metabolic Disease Group. GA1. Dietetic management. 2015 Full text (link to original source) Full text (in our servers)
  4. Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis. 2011 Abstract Full text (link to original source) Full text (in our servers)
  5. Gokcay G, Baykal T, Gokdemir Y, Demirkol M. Breast feeding in organic acidaemias. J Inherit Metab Dis. 2006 Abstract
  6. Hedlund GL, Longo N, Pasquali M. Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet. 2006 Abstract
  7. Huner G, Baykal T, Demir F, Demirkol M. Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. J Inherit Metab Dis. 2005 Abstract

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