A Clinical Guide to Inherited Metabolic Diseases (2nd by Joe T. R. Clarke

By Joe T. R. Clarke

This clinically equipped, straight forward, guide is meant to assist basic physicians and clinical experts in education with the 1st serious steps in medical analysis: the way to make certain that this is often an inherited metabolic affliction, and the place to head from the following to set up a analysis. it's a well-illustrated textual content that's equipped round the medical presentation of the affliction. Biochemical and metabolic strategies are awarded in a clinically correct context. It services to counterpoint extra conventional textbooks that are equipped biochemically. The e-book serves as an front to the self-discipline, to aid non-expert physicians and complex scientific trainees to beat the intimidation they're familiar with experiencing whilst facing metabolic difficulties. This new version has been improved to incorporate considerably extra on mitochondrial illnesses, new imaging strategies, and new concepts for screening and analysis.

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Extra resources for A Clinical Guide to Inherited Metabolic Diseases (2nd Edition)

Sample text

Biotinidase deWciency, a form of multiple carboxylase deWciency, commonly presents between three and six months of life with failure to thrive, metabolic acidosis, a skin rash resembling seborrheic dermatitis, and alopecia, in addition to seizures (see Chapter 3). However, any of the usual features of the disorder may be absent. Some infants have been reported presenting as early as one month of age with infantile spasms. The skin rash, hair changes, and acidosis may only develop some weeks or months later.

It is characterized by onset of feeding diYculties and failure to thrive, usually in the Wrst or second year of life. Seizures generally occur on a background of psychomotor retardation then regression, hypotonia, oculomotor abnormalities, recurrent episodes of apnea, ataxic breathing, and tachypnea. The course of the disease is variable. The neuro- 27 Chronic encephalopathy logic deterioration is often punctuated by periods of partial recovery, then acute deterioration. In some infants, progression of the disease appears to arrest for periods of up to several months.

Ogier, H. & Charpentier, C. (1996). Clinical approach to inherited metabolic diseases. In Inborn Metabolic Diseases: Diagnosis and Treatment, 2nd edn. ed. J. M. Saudubray & G. Van den Berghe, pp. 3–39. Berlin: Springer-Verlag. S. & Valle, D. ) (1995). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill. S. & Valle D. (Eds) (2001). The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill. W. (1999). The mitochondrial genome: structure, transcription, translation and replication.

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