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Inborn Errors of Metabolism

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Prognosis of Neurological Diseases

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Abstract

Urea cycle disorders: mortality at 10 years is 60 %, if neonatal presentation is excluded.

Organic acidurias/acidemias: most symptomatic patients carry severe handicaps.

Phenylketonuria: early treated adult patients may show impairment of selective, sustained attention and working memory.

Guanosine triphosphate cyclohydrolase 1 deficiency: most patients obtain remission of symptoms.

Classic homocystinuria: is a good example of a treatable disorder.

Fabry disease: renal transplant has improved survival to 58.2 years in males and 75.4 years in females.

Niemann-Pick type C disease: late-onset variants present severe motor, cognitive, and psychiatric impairment.

Cerebrotendinous xanthomatosis and neuronal ceroid lipofuscinoses: have lowered life expectancy.

Menkes disease: causes severe disability and poor survival rate.

Wilson’s disease: liver failure is the main life-threatening feature.

Neurodegeneration with brain iron accumulation: early-onset variants have a rapid, progressive course.

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Authors and Affiliations

  1. Division of Metabolic Diseases, Department of Pediatrics, Padua University Hospital, Via Orus 2/B, Padua, 35129, Italy

    Alberto Burlina

  2. Division of Metabolic Diseases, Department of Pediatrics, Padua University Hospital, Via Giustiniani 2, Padua, 35129, Italy

    Andrea Celato

  3. Neurological Unit, St. Bassiano Hospital, Via dei Lotti 40, Bassano del Grappa, 35126, Italy

    Alessandro P. Burlina

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  1. Alberto Burlina
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Correspondence to Alberto Burlina .

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Editors and Affiliations

  1. Fondazione “Giancarlo Quarta”, Milano, Milan, Italy

    Angelo Sghirlanzoni

  2. Istituto Neurologico C. Besta, Milan, Italy

    Giuseppe Lauria

  3. Istituto Neurologico C. Besta, Milan, Italy

    Luisa Chiapparini

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Burlina, A., Celato, A., Burlina, A.P. (2015). Inborn Errors of Metabolism. In: Sghirlanzoni, A., Lauria, G., Chiapparini, L. (eds) Prognosis of Neurological Diseases. Springer, Milano. https://doi.org/10.1007/978-88-470-5755-5_19

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