Neurochemistry of Metabolic Diseases

Lysosomal Storage Diseases, Phenylketonuria, and Canavan Disease

Buch | Hardcover

319 Seiten

2020
Nova Science Publishers Inc (Verlag)
978-1-5361-8339-9 (ISBN)

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Metabolic disorder caused by altered levels of metabolism resulting pathophysiological abnormalities often leads to childhood death. Several new developments on metabolic diseases research have been emerging. Gaucher disease is a lysosomal storage disorder caused by glucocerebrosidase gene mutations resulting glucocerebrosidase deficiency. Current studies show that the same gene mutations also contribute to the Parkinson's disease. Tetrahydrobiopterin (BH4) has been widely used in treating patients with Phenylketonuria over a decade. Recent studies reveal that patients treated with BH4 over one-year period showed reduced levels of serum B12, folate and iron intake and therefore patients under chronic BH4 treatment needed to be advised to have additional micronutrients along with BH4. Macrocephaly was used as one of the important features to diagnose Canavan disease. However, a recent study showing a child with aspartoacylase gene mutation developed microcephaly. Hence, Canavan disease phenotype can be either macrocephaly or microcephaly. These are a few examples of recent developments on metabolic diseases research. Therefore, this book was aimed to compose current developments on metabolic diseases research for the use by broad spectrum of experts including Physicians, Neuroscientists, Neurologists, Biomedical researchers, Biochemists, Molecular biologists, Basic Science Researchers and Medical Students.

Preface; Mucolipidosis Disease in the United Arab Emirates; Sialidosis and Galactosialidosis: Molecular Mechanism and Therapeutic Effect; Mucopolysaccharidosis Type III (Sanfilippo Disease) Subtypes A, B, C, D: Molecular Mechanism and Therapeutic Effect; Mucopolysaccharidosis Type VII/Sly Disease: Molecular Mechanism and Therapeutic Effect; GM2 Gangliosidosis /Tay Sachs Disease: Molecular Mechanism and Therapeutic Effect; GM2 Gangliosidoses Type II/Sandhoff Disease (SD): Diagnosis and Therapeutic Effect; Metachromatic Leukodystrophy: Molecular Mechanism and Therapeutic Effect; Parkinsons Disease Association with Gaucher Disease and Therapeutic Effect; Phenylketonuria: Diagnosis and Therapeutical Options; Current Trends in Canavan Disease Research and Therapeutic Effect; Index.

Erscheinungsdatum	01.09.2020
Verlagsort	New York
Sprache	englisch
Maße	155 x 230 mm
Gewicht	596 g
Themenwelt	Studium ► 1. Studienabschnitt (Vorklinik) ► Biochemie / Molekularbiologie
ISBN-10	1-5361-8339-3 / 1536183393
ISBN-13	978-1-5361-8339-9 / 9781536183399
Zustand	Neuware