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At least 19 recordsLinked to original sources
PubMed1975

[Severe metabolic diseases in neonates. Diagnosis and treatment (author's transl)].

Life-threatening diseases in the newborn period might be due to rare inborn errors of metabolism. Clincal symptoms, diagnostic approach and therapy are outlined in some inherited diseases of amino acid-, carbohydrate and organic acid metabolism. A proposual for initial management in a suspected case is made.

Amino Acid Metabolism, Inborn Errors↗
PubMed1977

Screening for metabolic disorders among high risk infants and children.

In a screening program in Cincinnati urine specimens from over 20,000 infants and children were tested for inherited metabolic disorders involving amino acids, carbohydrates, phenolic acids, organic acids, keto acids, mucopolysaccharides, and imidazoles. The subjects were selected on the basis of symptoms such as vomiting, diarrhea, acidosis, seizures, failure to thrive, delayed development, mental retardation, and others. The tests were based primarily on paper chromatographic techniques. Patients with 21 different metabolic disorders were found. The patterns of abnormal excretion of amino acids and other metabolites are often useful in making a diagnosis.

Amino Acid Metabolism, Inborn Errors↗
PubMed1993

Diagnosis and therapy of organic acidurias.

Organic acidurias are a group of numerous inherited metabolic disorders with an involvement of different pathways of the amino acid, carbohydrate and lipid metabolism. Many diseases have their onset with an acute metabolic crisis in the newborn period. The most important diagnostic investigation is organic acid analysis of urine by gas chromatography-mass spectrometry. Because specific clinical signs are lacking, a selective screening procedure is recommended. Diagnosis and therapy should be aggressive, since prognosis of many disorders is related to early diagnosis and specific therapeutic measures. These include long term management with protein restriction, supplementation with special amino acid mixtures and carnitine. In our experience continuous arteriovenous hemofiltration has turned out to be a very effective detoxification method during acute metabolic crisis of the newborn. Long term follow up and therapy control is very important for the outcome of the patients. Measurement of odd long chain fatty acids (OLCFA) in erythrocyte membranes has proved to be a good control parameter of the metabolic condition of children with disorders of the branched-chain amino acid metabolism.

Amino Acid Metabolism, Inborn Errors↗
PubMed1991

Increased prevalence of hereditary metabolic diseases among native Indians in Manitoba and northwestern Ontario.

OBJECTIVE: To compare the prevalence of hereditary metabolic diseases in the native and non-native populations of Manitoba and northwestern Ontario. DESIGN: Retrospective analysis. SETTING: Children's Hospital, Winnipeg. PATIENTS: Patients were selected by three methods: laboratory tests designed to screen patients suspected of having a metabolic disease, laboratory investigation of newborn infants with abnormalities detected through screening, and investigation of near relatives of probands with disease. RESULTS: A total of 138 patients with organic acid, amino acid and carbohydrate disorders were seen from 1960 to 1990. Of these, 49 (36%) were native Indians (Algonkian linguistic group). This was in sharp contrast to the proportion of native Indians in the total study population (5.8%). Congenital lactic acidosis due to pyruvate carboxylase deficiency (13 patients), glutaric aciduria type I (14 patients) and primary hyperoxaluria type II (8 patients) were the most common disorders detected. Other rare disorders included glutaric aciduria type II (one patient), 2-hydroxyglutaric aciduria (one patient) and sarcosinemia (one patient). Underreporting, especially of glutaric aciduria type I and hyperoxaluria type II, was likely in the native population. CONCLUSIONS: Hereditary metabolic diseases are greatly overrepresented in the native population of Manitoba and northwestern Ontario. We recommend that native children who present with illnesses involving disturbances of acid-base balance or with neurologic, renal or liver disease of unknown cause by investigated for a possible metabolic disorder.

Acidosis, Lactic↗
PubMed1984

Symptoms and signs in organic acidurias.

Organic acidaemias can present with a wide variety of signs and symptoms. A survey of the clinical presentation of the organic acidurias shows that single symptoms are not characteristic or diagnostic. Clinical awareness coupled with appropriate laboratory investigation is required for the correct diagnosis to be reached.

Acids↗
PubMedDate not supplied

Metabolic tapetoretinal degenerations.

There are a number of metabolic diseases which cause tapetoretinal degeneration, suggesting that pure pigmentary retinopathy may also be metabolic in nature. On the other hand tapetoretinal degenerations may have various modes of inheritance, so we may conclude that the metabolic disorder at the basis of these diseases is not unique and that tapetoretinal degenerations are heterogenic. In this article, some 450 published reports on tapetoretinal degenerations are reviewed. Based on these reports, the clinical and ocular manifestations, laboratory and histopathological findings, inheritance patterns, and treatments of various syndromes characterized by tapetoretinal degenerations are described. It is hoped that the gathering together of this information in one source will acid in the future understanding of metabolically based eye disease.

Adolescent↗
PubMed1989

Laboratory detection of metabolic disease.

This article describes the clinical signs, abnormal chemistry, histopathology, and biochemical tests that assist in the diagnosis of many inherited metabolic diseases. Small molecule diseases (for example, amino acid disorders, organic acidurias, and galactosemia) may present with acute illness and lead to unexplained death. Diagnosis of the specific enzyme defect may permit treatment by dietary changes or vitamin supplementation. Large molecule diseases are degenerative disorders due to storage of glycogen, glycoproteins, or mucopolysaccharides. Table 7 presents a compendium of laboratory investigations one should consider using when abnormalities are found in multiple organ systems. The investigation of a child with a mucopolysaccharidosis is used as an example of the use of this table. Investigating pediatricians should realize that many laboratory tests involved in the diagnosis of metabolic disease required special collection and handling by the laboratory.

Amino Acid Metabolism, Inborn Errors↗