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[3-hydroxy-3-methylglutaraturia. Clinical aspects, follow-up and therapy in a young child]
E Plöchl1, C Bachmann, J P Colombo
1Kinderspital der Landeskrankenanstalten Salzburg.
Insights
This report details a case of 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency in an infant. Early diagnosis and dietary management are crucial for preventing severe metabolic crises and ensuring normal development.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency is a rare inherited metabolic disorder.
- It affects the ketone body synthesis pathway, leading to accumulation of toxic metabolites.
Observation:
- An infant presented with recurrent vomiting, feeding difficulties, hepatomegaly, and reduced consciousness.
- Laboratory findings included acidosis, hypoglycemia, elevated transaminases, and characteristic urinary organic acid profiles (dicarboxylic aciduria).
Findings:
- Diagnosis was confirmed by deficient 3-hydroxy-3-methylglutaryl-CoA-lyase activity in fibroblasts.
- The patient exhibited a typical pattern of organic aciduria, pathognomonic for the deficiency.
Implications:
- A protein and fat-restricted diet combined with carnitine supplementation led to normal development.
- Avoiding fasting, infections, and stress is vital to prevent hypoglycemia and potential pancreatic dysfunction.
Abstract:
This is a report of an infant with 3-hydroxy-3-methylglutaryl-CoA-lyase deficiency. During infancy vomiting and feeding difficulties had been found repeatedly. Nutrition consisted in a mixture of one third of milk diluted with two thirds of water. Shortly before admission a change to whole milk had taken place. The one year old girl was admitted to the hospital because of vomiting and diarrhoea. Liver was enlarged and consciousness reduced. There was acidosis, hypoglycemia and an elevation of the transaminases. The typical pattern of organic acids in urine and dicarboxylic aciduria was pathognomonic. The diagnosis was proved by a deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase in fibroblasts. A protein and fat restricted diet, but also carnitine supplement was introduced. With the exception of severe hypoglycemia seizures on one morning the more than 2 1/2 year old girl is developed normally. It is of importance for future to avoid hypoglycemia after fasting, infections diseases or stress. The possible impairment of pancreatic function even in a normal clinical condition with normal values of transaminases is especially pointed out.