Phenylketonuria

Lane, John D.; Neuhoff, Volker

doi:10.1007/bf01054531

Cited by 14 publications

(1 citation statement)

References 53 publications

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“…Many other laboratories have shown that αMePhe + Phe-treated rats exhibit characteristics common to other PKU models and relevant to the pathophysiology of PKU, including the presence of phenylalanine metabolites (phenylpyruvate, phenyllactate), lower brain weight and serotonin levels, decreased synaptic density, reduced levels of myelin, polysome disaggregation, persistent behavioral or cognitive abnormalities (e.g., [14, 64, 70–76]). These studies also showed that αMePhe has much less toxicity than pCPhe.…”

Section: Discussionmentioning

confidence: 99%

Biochemical, Metabolic, and Behavioral Characteristics of Immature Chronic Hyperphenylalanemic Rats

Dienel

Cruz

2015

Neurochem Res

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Phenylketonuria and hyperphenylalanemia are inborn errors in metabolism of phenylalanine arising from defects in steps to convert phenylalanine to tyrosine. Phe accumulation causes severe mental retardation that can be prevented by timely identification of affected individuals and their placement on a Phe-restricted diet. In spite of many studies in patients and animal models, the basis for acquisition of mental retardation during the critical period of brain development is not adequately understood. All animal models for human disease have advantages and limitations, and characteristics common to different models are most likely to correspond to the disorder. This study established similar levels of Phe exposure in developing rats between 3 and 16 days of age using three models to produce chronic hyperphenylalanemia, and identified changes in brain amino acid levels common to all models that persist for ~16h of each day. In a representative model, local rates of glucose utilization (CMRglc) were determined at 25–27 days of age, and only selective changes that appeared to depend on Phe exposure were observed. CMRglc was reduced in frontal cortex and thalamus and increased in hippocampus and globus pallidus. Behavioral testing to evaluate neuromuscular competence revealed poor performance in chronically-hyperphenylalanemic rats that persisted for at least three weeks after cessation of Phe injections and did not occur with mild or acute hyperphenylalanemia. Thus, the abnormal amino acid environment, including hyperglycinemia, in developing rat brain is associated with selective regional changes in glucose utilization and behavioral abnormalities that are not readily reversed after they are acquired.

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Section: Discussionmentioning

confidence: 99%

Biochemical, Metabolic, and Behavioral Characteristics of Immature Chronic Hyperphenylalanemic Rats

Dienel

Cruz

2015

Neurochem Res

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Microelectrophoresis and auxilary micromethods

Neuhoff

2000

Electrophoresis

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In this retrospect of approximately 30 years of work with micromethods, some of them developed in our own laboratory, their principles and application to different separation problems are described, such as one‐ and two‐dimensional microelectrophoresis in capillaries and microslab gels, isoelectric focusing in capillaries or microslab gels, microchromatography, microphotometry, and microfluorometry for qualitative and quantitative evaluation of separation patterns. In addition, some useful auxiliary methods are also described, e.g., a method for quantitative protein determination in a microliter volume when neither the volume nor the protein content in that volume are known, and methods for the determination of glycoproteins, amino acids, and sugars in the picomole range.

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One‐ and two‐dimensional electrophoresis in micro‐slab gels

Poehling

Neurhoff

1980

Electrophoresis

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All acrylamide slab gel electrophoresis widely used for various separation problems at the marcro‐level can be converted readily to micro‐versions. This is demonstrated in isoelectric focusing, homogeneous or gradient micro‐slab gels, and two‐dimensional separations. The different types of micro‐slab gel electrophoresis have the same resolving capability as the corresponding macro‐method, which is demonstrated with different biological samples. Enzyme staining after two‐dimension separations is also possible. The apparatus, preparation and handling of the different micro‐slab gels is described in full detail.

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Phenylketonuria

Cited by 14 publications

References 53 publications

Biochemical, Metabolic, and Behavioral Characteristics of Immature Chronic Hyperphenylalanemic Rats

Biochemical, Metabolic, and Behavioral Characteristics of Immature Chronic Hyperphenylalanemic Rats

Microelectrophoresis and auxilary micromethods

One‐ and two‐dimensional electrophoresis in micro‐slab gels

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