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At least 19 recordsLinked to original sources
PubMed1977

The nutritional significance of inborn errors of amino acid metabolism.

Inborn errors of metabolism affect the metabolism of 7 out of 8 essential amino acids and a number of non-essential ones. Dietary treatment has been applied with varying success. The wide variations in the severity of symptoms in this group of diseases are discussed. Dietary treatment opens the possibility to collect information about the minimal requirements of most essential amino acids. These requirements are likely to be still lower than those mentioned in the WHO Report No. 522, 1976. Children who for years have lived on one of these restricted diets, provide the possibility to compare the effect of such a diet on their nutritional status with that of children living on a normal diet.

Amino Acid Metabolism, Inborn Errors↗
PubMed1979

Dietary management of inborn errors of amino acid metabolism.

Individually, inborn errors of amino acid metabolism are rare. Collectively, however, they constitute a significant group of diseases whose number is constantly increasing. Their recognition is important, especially in childhood, because many of these diseases respond well to diet therapy.

Amino Acid Metabolism, Inborn Errors↗
PubMed1976

[Morphological and biochemical investigations of hairs in inborn errors of amino acid metabolism (author's transl)].

The influence of inborn errors of metabolism on the amino acid content, the structure and growth of human hair has been studied in patients suffering from Phenylketonuria, Cystinosis, Homocystinuria and Tyrosinosis. Examiniation of hairs under the scanning electron microscope reveals defects and abnormalities such as a plicated pattern of the cuticula in patients with Phenylketonuria and Cystinosis. The amino acid content of the hydrolized hair keratin of all patients was within normal range and did not reveal significant changes of phenylalanine, cystine, homocystine, methionine or tyrosine. Disturbance in hair growth was determined by evaluation of standardized hair root samples. The results indicate an increase in hair root atrophy with increasing severity of the disorder of amino acid metabolism.

Amino Acid Metabolism, Inborn Errors↗
PubMed1995

HPLC analysis of amino acids in inborn errors of metabolism.

Analysis of amino acids in blood or urine is a valuable diagnostic tool in cases of suspected metabolic disorders. The presence of a characteristic pattern of elevated amino acids is very useful in the diagnosis of these rare disorders. The detection of an apparently normal pattern of amino acids is also helpful to the clinician since it will eliminate many inborn errors of metabolism from the list of potential disorders. Methodologies for amino acid analysis in physiological fluids range from the very simple thin layer chromatography to automated low pressure or high pressure chromatography. Low pressure chromatography using a Beckman analyzer or similar instrument is the most common methodology for physiological amino acid analysis. Chromatography (HPLC) systems for amino acid analysis of proteins are available that can be modified for use with physiological samples. Waters makes a system called Picotag(TM) and Applied Biosystems makes an automated analyzer. These HPLC systems have some advantages over LPLC systems, including lower equipment cost, less caustic buffer systems and improved separation of certain amino acids.

Amino Acid Metabolism, Inborn Errors↗
PubMed1992

[Prenatal diagnosis of inborn error of amino acid metabolism].

Prenatal diagnosis of inborn errors of amino acid metabolism was discussed from the viewpoints of its purpose, ethical problems, analysis methods, and sampling methods of the fetal tissues. In addition to the general discussion, our results of the prenatal diagnosis of 20 cases with nonketotic hyperglycinemia (NKH) were also reported. Nineteen cases were diagnosed by the enzymatic method, while one Finnish case was successfully diagnosed by DNA analysis, which is based on our observation that a missense mutation we identified accounts for 70% of the mutant alleles in Finland. The DNA analysis would be a great help for the prenatal diagnosis in Finland where the incidence of NKH is unusually high (1: 12,000 births).

Amino Acid Metabolism, Inborn Errors↗