DIBASIC PROTEIN INTOLERANCE: Straddling the metabolic and autoimmune divides
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It is a multisystemic metabolic disease. Its management is made difficult by the complexity of its pathophysiology.
The median age of onset was 9 months. The median age at diagnosis was 21 months.
Growth retardation (n=7) and hepatosplenomegaly (n=6) were almost constant signs of the disease, followed by protein aversion (n=5), pallor (n=5) and neurological signs (n=4). Ammonia was elevated in 6 patients.
Amino acid chromatography supported the diagnosis in two patients. Molecular biology revealed the del TTCT 1471 mutation in 5 patients.
A low-protein diet and citrulline supplementation were prescribed in all patients. Complications of the disease were frequent: growth retardation was noted in all patients.
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£27.18
£28.33 -
£10.58
£12.58 -
£16.71
£17.13
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