Bernd C. Schwahn , Claire Hart , Louisa Ann Smith , Anthony Hart , Lynette Fairbanks , Monica Arenas-Hernandez , Charles Turner , Alistair Horman , Stewart Rust , José A. Santamaria-Araujo , Simon J. Mayr , Günter Schwarz , Mark Sharrard
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引用次数: 0
Abstract
We report the first, and so far, only index patient with neonatal onset MoCD type A who was diagnosed and treated early enough with cPMP to avoid severe brain injury and disability. The child presented with hypoglycemia at the age of 10 h and was diagnosed because of the incidental finding of severely decreased L-cystine in plasma. Due to a high level of awareness and excellent co-operation between metabolic laboratory and clinical services, cPMP substitution could be initiated before severe encephalopathy set in, and the child subsequently had a normal motor development. The child has been continued on daily substitution with cPMP until today (age 7 years) and has shown a satisfying long-term developmental outcome. Long-term follow-up, however, revealed significant communication difficulties and cognitive abilities in the range of mild to moderate learning disability. The severity of the metabolic disease was confirmed by the extent of biochemical abnormalities and further functional characterisation of the underlying genetic variants. This case provides further evidence that cPMP substitution does significantly alter the disease course when applied early enough. Postnatal treatment in this case was not sufficient to enable an entirely normal cognitive development, despite sustained complete normalization of the biochemical abnormalities.
期刊介绍:
Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.