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GLUTARIC ACIDEMIA -TYPE 1
Dr. Ira Shah
MD, DCH (Gold Medalist), FCPS, DNB

Case Report


A 16 month old girl born of non consanguineous marriage presented with fever since 8 days and cough lasting for 5 days. She had been treated for the above complaints in a private nursing home with IV antibiotics, salbutamol and paracetamol. She now had generalized tonic clonic convulsions 3 episodes since morning associated with vomiting. Her family history and past history was non-contributing. Milestones were normal. On examination, she was drowsy and tachpneic (Respiratory rate = 70/min). Her perfusion was poor with hypotension (B.P. = 80/40 mm of Hg) suggestive of shock. Her systemic examination revealed hepatomegaly. There was no focal neurological deficit and no signs of meningitis. She was suspected as a case of sepsis with shock. Investigations showed normal hemogram with negative C-reactive protein and cultures did not grow any organism. CSF was normal. Her arterial blood gas showed severe metabolic acidosis [pH = 6.9, bicarbonate = 2.1 mEq/L] with positive anion gap (46). Random blood sugar, serum ammonia, serum lactate, pyruvate, renal function tests were normal. Urine ketones were negative. Liver transaminases were deranged (SGOT = 287 IU/L, SGPT = 470 IU/L) but Prothrombin Time, Partial Thromboplastin time, Total proteins and serum bilirubin were normal. In view of shock unresponsive to fluid boluses and no evidence of sepsis, an echocardiogram was done that showed compromised left ventricular function though serum CPK was normal. The child was treated with bicarbonate infusions, Dobutamine and IV fluids. Her sensorium improved and she had a complete neurological recovery. In view of severe metabolic acidosis with high anion gap and no evidence of infection, an underlying metabolic disorder was considered. Urine for organic acids revealed increased 3-hydroxy Glutaric Acid suggestive of Glutaric Acidemia Type 1. The child was started on Riboflavin & Carnitine supplements and discharged.

Discussion


It is an autosomal recessive disorder caused by deficiency of Glutaryl CoA dehydrogenase. Patients may develop normally upto 2 years of age as was seen in our patient. Macrocephaly may be seen. After a minor infection, symptoms of hypotonia, choreoathetosis, seizures, dystonia may occur. Recovery from 1st attack is slow and some residual neurologic abnormality may persist. Similar episodes may recur during an intercurrent infection and metabolic decompensation with vomiting, ketosis, seizures and even death may occur. Some patients may develop rigidity and dystonia over period of years through intellect may remain normal. Investigations may reveal metabolic acidosis, ketosis, hypoglycemia, hyperammonemia or elevated serum transansinases in some patients. Our patient had elevated transaminases. 3-Hydroxy glutaric acid is elevated in urine and high concentrations of glutaric acid may be seen in urine, blood or CSF. Plasma amino acids are normal. Treatment consists of low protein diet, high doses of riboflavin and carnitine. Prenatal diagnosis can be done by demonstrating increased concentration of glutaric acid in amniotic fluid.

Reference


  1. Rezvani I. Defects in Metabolism of Amino Acids. Eds: Behrman RE, Kliegman RM, Jenson HB. In Nelson’s Textbook of Pediatrics, 17th ed. Saunders. Philadelphia. 2004; 427-429.


Last updated: 1-07-2005

How to cite this url

Shah I.Glutaric Acidemia - Type 1 .Pediatric Oncall [serial online] 2005 [cited 2005 July 1];2. Available from:
http://www.pediatriconcall.com/fordoctor/casereports/
glutaricacidemia_type1.asp
 
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Funk CB, Prasad AN, Frosk P, Sauer S, Kolker S, Greenberg CR, Del Bigio MR. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain. 2005 Apr;128(Pt 4):711-22.

  3..
Kyllerman M, Skjeldal OH, Lundberg M, et al. Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations. Mov. Disord. 1994; 9: 22-30
  4.
Goodman SI., Gallegos DA, Pullin CJ, et al. Antenatal diagnosis of glutaric acidemia. Am. J. Hum. Genet. 1980; 32: 695-699.

Last updated: 1-07-2005 Vol 2 Issue 7 Art # 35

How to cite this url

Shah I.Glutaric Acidemia - Type 1 .Pediatric Oncall [serial online] 2005 [cited 2005 July 1];2. Art # 35. Available from:

 
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 » Apply For Research Grant
  Search  
Hospitals
Pediatrician
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  Ped Tools  
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Medical Equipment
Vaccine Reminder
Adverse Drug Reactions
Biochemical Profile
Online MCQ's
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+ Growth
+ Conversion
+ Renal
+ Pregnancy
+ Blood Pressure
+ Blood Group
+ Critical Care
+ Drug Dose
+ Diarrhea Solution
+ Reference Values
+ Antibody Test
+ Drug Interaction
 
 
Parent Corner l Kids Corner l Terms & Condition l Privacy Statement | Advertising l Feedback | Awards
Newsletter | About Us l Link to Us l Site Map l Shopping Mall l Media Room  
Partner Sites
 HIV in Children  Infection in Children  Pedcall  Medical ADRIS  Vaccine Reminder  Pediatric Oncall Journal
Health Solutions from our sponsors
 Surfactant  Diarrhea  Nutrition      

Copyright© 2000-2008 All rights reserved with Pediatric Oncall

Disclaimer:The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitue an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.

 
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