Inborn errors

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  • (BQ) Part 2 book "Clinical chemistry (organ function tests, laboratory investigation)" presents the following contents: Laboratory investigations, miscellaneous, inborn metabolic diseases (inborn errors of metabolism).

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  • Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4th edition has been extensively revised.

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  • Những sai hỏng trao đổi chất bẩm sinh ở người A. Garrod, 1923 xuất bản Inborn errors of metabolism, đầu tiên phát hiện bệnh Alkaptouria (nước tiểu đen) liên quan đến gene lặn. Gene có liên quan đến phản ứng sinh hóa. Phát hiện tiếp theo: Bệnh Alkaptouria do thiếu enzyme oxidase của Homogentisic acid. Cho đến nay hàng nghìn bệnh di truyền trao đổi chất bẩm sinh được phát hiện.

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  • Modern neuroimaging tools allow unprecedented opportunities for understanding brain neuroanatomy and function in health and disease. Each available technique carries with it a particular balance of strengths and limitations, such that converging evidence based on multiple methods provides the most powerful approach for advancing our knowledge in the fields of clinical and cognitive neuroscience. In addition to offering fine-grained in-vivo neuroanatomical specification, neuroimaging methods also provide the opportunity to non-invasively explore brain function.

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  • Biotin Biotin is a water-soluble vitamin that plays a role in gene expression, gluconeogenesis, and fatty acid synthesis and serves as a CO 2 carrier on the surface of both cytosolic and mitochondrial carboxylase enzymes. The vitamin also functions in the catabolism of specific amino acids (e.g., leucine). Excellent food sources of biotin include organ meat such as liver or kidney, soy, beans, yeast, and egg yolks; however, egg white contains the protein avidin, which strongly binds the vitamin and reduces its bioavailability.

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  • CKD in children is the result of heterogeneous  diseases  of  the  kidney  and  urinary  tract  that  range from common congenital malformations  of  the  urinary  tract,  to  rare  inborn  errors  of  metabolism that affect kidney  function[1] . CKD  is  an  irreversible  condition  that  eventually  progresses  to end stage renal disease  (ESRD).  It is an important cause of morbidity and  mortality in children worldwide [2,3] .

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  • (BQ) Part 2 book “A manual of neonatal intensive care” has contents: Neurological problems, endocrine disorders, gastroenterological problems, neonatal haematology, genitourinary problems, metabolic disorders, including glucose homeostasis and inborn errors of metabolism,… and other contents.

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