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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 22  |  Issue : 4  |  Page : 288-290

Language characteristics in child with glutaric acidemia Type 1


Department of Speech and Hearing, School of Allied Health Sciences, Manipal University, Manipal, Karnataka, India

Date of Web Publication13-Oct-2016

Correspondence Address:
P G Bhargavi
Department of Speech and Hearing, School of Allied Health Sciences, Manipal University, Manipal - 576 104, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-7749.192185

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  Abstract 

Glutaric acidemia Type 1 is a condition due to inborn error of metabolism. It is generally characterized by elevated urinary excretion of glutaric acid, 3-hydroglutaric acid, and glutarylcarnitine. This can result in medical issues along with speech and language deficits. The extent of problems often varies from individual to individual. This study attempts to highlight the varying language characteristics and prognosis demonstrated in a child with glutaric acidemia Type 1.

Keywords: Glutaric acidemia Type 1, Inborn error of metabolism, Language skills


How to cite this article:
Sattiavany V, Bhargavi P G, John S. Language characteristics in child with glutaric acidemia Type 1. Indian J Otol 2016;22:288-90

How to cite this URL:
Sattiavany V, Bhargavi P G, John S. Language characteristics in child with glutaric acidemia Type 1. Indian J Otol [serial online] 2016 [cited 2019 Apr 23];22:288-90. Available from: http://www.indianjotol.org/text.asp?2016/22/4/288/192185


  Introduction Top


Glutaric acidemia Type 1 is a type of inborn metabolic disorder which follows an autosomal recessive pattern with an occurrence of 1 in every 100,000 children. [1] Glutaric acidemia Type 1 occurs when an enzyme called "glutaryl-coA dehydrogenase" is either missing or not working properly. This is due to mutation in a gene which controls the production or codes for the enzyme glutaryl coA dehydrogenase located on the short arm of chromosome 19P13.2. This enzyme's job is to break down a substance called glutaryl-coA. Glutaryl-coA is produced when the amino acids lysine, hydroxylysine, and tryptophan are processed. During this process, it causes glutaric acid and other harmful substances to build up in the blood and cause problems.

Glutaric acidemia Type 1 is characterized by macrocephaly at birth, dystonia, and seizures. [2] Children with this condition exhibit motor development delay, speech and language delay and may also have high risk of mental retardation. [3] A child with glutaric acidemia Type 1 along with episodes of metabolic crisis is most likely to have significant speech and language deficits. However, literature regarding language characteristics and intervention plan used in these rare metabolic conditions are very limited. In this case study, we report the evident delay which was observed in the receptive and expressive skills of a child with Glutaric acidemia Type 1 and how over a period the language approached near normal.


  Case Report Top


A 4-year-old male child was admitted to the Department of Pediatrics with complaint of high fever and the inability to walk without support and unclear speech. There was a delay in motor milestones during child's development.

The investigations carried out were urine and blood test which revealed excess quantities of glutaric acid and carnitine level. Radiological findings specifically on magnetic resonance imaging (MRI) showed atrophy of frontotemporal area of the cerebral hemisphere, enlarged pre temporal middle cranial fossa and subarachnoid spaces, bilateral dilation of sylvian fissure also known as "batwing appearance." However, the brainstem and cerebellum were normal. Major intracranial flow maintained, and rest of both hemispheres was normal. Impression according to MRI was a possible representation of changes secondary to glutaric acidemia Type 1. [4]

The child was also referred for clinical psychological evaluation; the impression given was mild mental retardation in social and adaptive functions.

Detailed speech and language evaluation done at 4 years revealed the following findings. In terms of prelinguistic skills, eye contact was observed to be adequate, attention span, and sitting behavior were good. Eye-hand coordination was relatively poor, but his imitation skills were fair, and he used to point at desired objects. In terms of linguistic skills, the child was able to recognize family members, follow simple directions with cues. He was able to understand simple verbs and negations. Parents reported that the child tried to comprehend new words at school. Expression was through gestures. The child had an expressive vocabulary of 10 words. The child had few pragmatic skills-requesting, greeting, and peer interaction which were reported to be normal. On administration of Receptive-Expressive Emergent Language Scale, the receptive language age was found to be from 18 to 20 months and the expressive language age to be from 16 to 18 months. Based on the language skills, the child was diagnosed as delayed speech and language with global developmental delay secondary to glutaric acidemia Type 1. Therapy and home plan focused on intensive speech and language stimulation at home and activities to increase receptive and expressive vocabulary. The child was followed up from the age of 4.0 years to 5.3 years to understand the impact of glutaric acidemia Type 1 on speech and language development. A significant improvement in child's receptive skills was noticed over three follow-up evaluations done at different intervals of the year. The child was able to communicate verbally which was accompanied with gestures, but the intelligibility was poor. The outcome of three evaluations is depicted in [Table 1].
Table 1: Outcome of Language evaluation

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  Discussion Top


The present case report highlights the speech and language characteristics in children with glutaric acidemia Type 1. This is a metabolic disorder which typically affects during infancy and childhood with an onset during first 3 years of the life of the child.

In the present child, diagnosis of glutaric acidemia Type 1 was done at the age of four based on the biochemical and neuroimaging findings. Once identified at the age of 4 years, intensive intervention-pharmacologically was taken up. He was prescribed T-carnitor 500 mg per day which helped the cells of the body to make energy and get rid of harmful substances. Riboflavin 100 mg thrice a day was prescribed which is responsible for processing protein hence reducing the amount of glutaric acid produced in the body. A diet plan low in protein contents was recommended to the child. This type of diet modification is specifically tailor made to individuals with glutaric acidemia Type 1 which takes care of lysine and tryptophan. In this case, delay in development, predominantly motor skills and speech and language skills, is noticed.

The better prognosis in this child could be attributed to various factors. The child had not experienced any metabolic crisis for 1 year thus facilitating the improvement of the child. He responded positively with the home therapy plan as the goals were tailor-made to increase his linguistic skills and child showed improvement within a span of 6-7 months and furthermore improvement approximating the chronological age of the child within the span of 1 year 5 months. Hence with appropriate treatment to reduce or eliminate episodes of a metabolic crisis and intensive speech and language stimulation the language skills of a child with glutaric acidemia Type 1 can become near normal over a period. This was in consonance with Kyllerman et al., [5] who conducted a study on 12 cases aged 9-16 years with glutaric acidemia Type 1 and they found that the receptive language skills were superior to the expressive language skills and motor function.

It can be said that the prognostic indicators in this case is that the child was on medication, following a diet plan, and did not experience any episodes of metabolic crisis for 1 year. Presence of mild social adaptive deficits along with parent's motivation and persistence in carrying out speech therapy goals in home environment brought improvement in the language skills to a large extent. It is a speech and language pathologist's concern that therapy for such children should focus on overall communication and also ensure the development of effective communication skills and a stimulating environment around the child.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Hedlund GL, Longo N, Pasquali M. Glutaric acidemia type 1. Am J Med Genet C Semin Med Genet 2006;142C: 86-94.  Back to cited text no. 1
    
2.
Forstner R, Hoffmann GF, Gassner I, Heideman P, De Klerk JB, Lawrenz-Wolf B, et al. Glutaric aciduria type-1: Ultrasonographic demonstration of early signs. Paediatr Radiol 1999;29:138-43.  Back to cited text no. 2
    
3.
Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria; a "new" disorder of amino acid metabolism. Biochem Med 1975;12:12-21.  Back to cited text no. 3
    
4.
Brismar J, Ozand PT. CT and MR of the brain in glutaric acidemia type I: A review of 59 published cases and a report of 5 new patients. AJNR Am J Neuroradiol 1995;16:675-83.  Back to cited text no. 4
    
5.
Kyllerman M, Skjeldal OH, Lundberg M, Holme I, Jellum E, von Döbeln U, et al. Dystonia and dyskinesia in glutaric aciduria type I: Clinical heterogeneity and therapeutic considerations. Mov Disord 1994;9:22-30.  Back to cited text no. 5
    



 
 
    Tables

  [Table 1]



 

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