Dr. Ira Shah
MD, DCH (Gold Medalist), FCPS, DNB

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.

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.

Last updated: 1-07-2005