Glutaric academia type I is an inherited disorder that results from a mutation of a gene located on chromosome 19 then deficiency of glutaryl-CoA dehydrogenase (1). This enzyme catalyzes the dehydro- genation-decarboxylation of Glutaric acid in the degradation pathway of lysine, hydroxy-lysine and tryptophan(2). It results in the accumulation of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid and may be increased in the urine (3).
Infants with glutaric acidemia type 1 often are born with unusually macrocephaly that is amongst the earliest signs of GA1 (4). Affected patients will develop neurological disease and with acute dystonia viral respiratory or gastrointestinal illness (1).
Prevalence: Glutaric acidemia type I occurs in approximately 1 child in every 30,000 to 40,000 is born (5). The disease is common all over the world, but is more common among the Amish people of the US, the Lake Island Indians in Canada (6-7).
A 5.5 years old glutaric academia type 1 boy was admitted to NICU with loss consciousness and metabolic acidemia. Compliance of patient for hospitalization was Pneumonia and sepsis and he is under intubated and mechanically ventilated. This patient was a full term baby with normal birth weight. Her disease was diagnosed with signs of set developmental delay at 8 months old and the patient was under control for nutritional counseling with a nutritionist and pediatrician. Feeding problems are common in the group of patients with neurological disease and include chewing and swallowing difficulties resulting from dyskinesia, and reflux and vomiting resulting from truncal hypotonia
He is the only individual in his family with GA1, but there is a history of death of first child in family. Progress of disease lead to some complications such as dysphasia, growth impairment and developmental delay and Inability to walk.
On his biochemistry, blood sugar was 103 mg/d. Other tests showed Hb 8.2 g/dl, ammonia 83.9, lactate 49, magnesium 2.3, phosphor 3.5, urea 5, cratinine 0.4, sodium 136 and potassium 4.2.
Food/nutrition-related history: he fed from breast milk up to 2 years old of life. He only consumed milk formula of free lysine and tryptophan for 3months to now. Parents reported that he generally has limited protein diet free of cheese, milk, meat and cerebrals. But a meal of 20 gr lambs was eaten weekly. Now her weight is 11 kg that is under 5 percentile and the ideal body weight for this patient must be 18 kg (for 50 percentile) Percentile. Middle Arm Circumference (MAC) is 11 cm. Nutritional advices for this patient includes receiving 50% of estimated total caloric goal via enteral nutrition via nasogastric tube (gavages: vegetable and olive fat~ 500kcal and 700cc) and via parenteral include IV fluid IL 10% (250 ml/qid ). Protein restriction up to 0.5-1 mg/kg/d was considerate. Supplementation with B12 vitamin (dose: 1 mg/d), carnitine (dose: 50-100 mg /kg/d), B2 vitamin (dose: 100 mg /kg/d), zinc and Selenium were don. Although GA1 is rare, but diet and nutritional advices may have an important role in management of them. Optimal energy, protein intake may play an important role in management such disease.
Children with Glutaric academia type I usually have Dystonic problems that are at increased risk for malnutrition (8-9).
It is essential for GA-1 a carefully monitored dietary regime. All protein of food contains the amino acids tryptophan and lysine. As these amino acids are not broken down normally in this disease. Strauss et al reported low protein diet and emergency regimen in GA-1 patients improved 35% of whom developed basal ganglia disease (10). Sseveral studies indicated the use of a diet contains lysine-free, tryptophan-reduced AA supplements to maintain adequate total protein intake has been associated with the most favorable neurologic outcome and normal growth (5,11) although these recommend-ations may also increase the risk of tryptophan deficiency, which is associated with neurological dysfunction (11). On the other some cohort studies found no significant effect of dietary treatment on the outcome (12-13).
In addition to diet in these patients require Riboflavin supplements can stimulate enzyme production as cofactor; outcome (12-13). Lipkin and kolker indicated no firm evidence that riboflavin improves the neurological dysfunction of this disease (11).
Supplemental treatment with L-carnitine is usually administered in addition to a restricted diet to prevent carnitine decadency and to ensure mitochondrial homeostasis (14-15). The dose generally ranges from 50 to 100 mg/kg daily and should be adjusted to keep plasma free carnitine levels within the upper normal range (8).
Although GA1 is rare, but diet and nutritional advices may have an important role in management of this disease. Optimal energy, protein intake may play an important role in management such disease.