Inherited metabolic diseases (IMDs) are a large class of heterogeneous genetic disorders caused by dysfunction within a single pathway of intermediary metabolism. In many of these diseases, the dysfunction of metabolic enzymes leads to the accumulation of toxic metabolites which disrupts the normal development of the central nervous system. With the advent of treatments that positively influenc...

A girl with hereditary tyrosinemia, diagnosed at 6 months of age, was treated with a diet restricted in phenylalanine and tyrosine. At 9 1/2 years of age she developed an acutely enlarged liver and spleen, and the diagnosis of hepatocarcinoma was made. The patient received a liver transplant and tyrosine metabolites became normal while she was receiving a regular diet. Three months later, an in...

Tyrosinemia type I is the result of genetic disorder in fomaryl acetoacetase gene that leads to 4-fumaryl acetoacetate accumulation. The current treatment for tyrosinemia type I is nitisinone that inhibits 4-hydroxyphenyl pyruvic dioxygenase in competitive manner. In the present study, we have designed two theoretical chemicals, which could inhibit the direct enzyme responsible for fumarylaceto...

abstract        background and objective: osteoporosis is one of the complications of diabetes. the aim of this study was to determine the impact of resistance training along with portulaca oleracea supplementation on opg and nfκb levels (bone markers) in women with type ii diabetes.        methods: overall, 28 women with type ii diabetes (44 to 60 years old) were randomly and equally assigned ...

background: type ii diabetes is known as one of the most important, prevalent, and expensive diseases of mankind. late diagnosis and subsequent delayed initiation of treatment or surveillance of patients create a variety of problems for affected individuals. this has raised increasing concerns for public health authorities throughout the world. in the current study, we aimed to find a new appro...

A human inborn genetic disease, type I phenylketonuria [13] (PKU) is caused by a mutation in the gene encoding the enzyme phenylalanine dehydrogenase necessary to convert L-phenylalanine (L-Phe) to L-tyrosine, (L-Tyr). The accumulated L-Phe is metabolized by enforced side reaction to phenylpyruvate, phenylacetate, and phenyl-L-lactate excreted with urine, Fig. 1. The excess of phenylalanine hin...

Hereditary tyrosinemia type 1 is an inborn error of metabolism that affects numerous organs, particularly liver, kidneys and peripheral nerves. It usually presents in infants less than six months age with features liver failure, hepatoblastoma or hepatocellular carcinoma. Diagnosis by a combination clinical, biochemical imaging features. We report here the case four old infant presenting massiv...

Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. Advances in the field of genome editing have recently resulted in the in vivo correction of murine models of IEM. Site-specific endonucleases, such as zinc-finger nucleases and the CRISPR/Cas9 system, in combination with delivery vectors engineere...