By Joe T. R. Clarke
This clinically equipped, hassle-free, guide is meant to aid basic physicians and scientific experts in education with the 1st serious steps in medical prognosis: how one can confirm that this is often an inherited metabolic illness, and the place to move from right here to set up a analysis. it's a well-illustrated textual content that's equipped round the medical presentation of the illness. Biochemical and metabolic options are provided in a clinically proper context. It services to enrich extra conventional textbooks that are geared up biochemically. The e-book serves as an front to the self-discipline, to aid non-expert physicians and complicated clinical trainees to beat the intimidation they're familiar with experiencing whilst facing metabolic difficulties. This new version has been accelerated to incorporate considerably extra on mitochondrial ailments, new imaging suggestions, and new recommendations for screening and prognosis.
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Additional info for A Clinical Guide to Inherited Metabolic Diseases (2nd Edition)
The presence of peripheral neuropathy may not be clinically obvious, but it is an important feature of inherited disorders of myelin lipid metabolism, such as metachromatic leukodystrophy and Krabbe globoid cell leukodystrophy. Metachromatic leukodystrophy (MLD) is caused by deWciency of arylsulfatase A and is characterized by accumulation of the myelin lipid, sulfatide, in the brain and peripheral nerve. The clinical presentation in early onset variants of MLD is usually dominated by signs of motor diYculties, such as weakness, clumsiness, and stumbling, resembling ataxia.
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.
As in the case of other autosomal recessive conditions, the disease phenotype of various aVected individuals in the same family tends to be very similar. The situation is quite diVerent with regard to the pattern of inheritance and clinical expression of disease caused by mtDNA mutations. The mitochondria in the cells of each individual are derived at the time of conception from the mitochondria in the cytoplasm of the ovum; the mitochondria and mtDNA of the sperm are lost during the process of fertilization.