Vitamin-Responsive Inherited Metabolic Disorders

Rosenberg, León E.

doi:10.1007/978-1-4615-8264-9_1

Cited by 13 publications

(7 citation statements)

References 125 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These observations suggest that defective FAD binding to an altered MCADH apoenzyme does not explain MCADH deficiency in MCD. Since the Michaelis constants (Km's) ofthe ADH for FAD are quite low, ranging from 0.43 to 2.4 AM (21)(22)(23), these data do not exclude the existence of a mutant MCADH apoenzyme in MCD with a K. for FAD 100-fold greater than normal and/or the accelerated degradation of such a protein in vivo (27).…”

Section: Discussionmentioning

confidence: 89%

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

Amendt¹,

Rhead²

1985

J. Clin. Invest.

View full text Add to dashboard Cite

Medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCADH; EC 13.993) formation from 12,3-3Hjoctanoyl-CoA was 15% ofcontrol. When 3H20 formation was assayed with 200 MM 12,3VHjacyl-CoAs, 15 mM PMS, and 20 MM FAD in fibroblast sonic supernatants from seven MCD cell lines, SCADH, MCADH, and IVDH activities were 72-112% (P> 0.1), 4-9% (P < 0.01), and 86-135% (P > 0.1) of control, respectively, revealing no significant biochemical heterogeneity among these patients.

show abstract

Section: Discussionmentioning

confidence: 89%

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

Amendt¹,

Rhead²

1985

J. Clin. Invest.

View full text Add to dashboard Cite

show abstract

“…In consideration of the paradigm of cofactor-responsive metabolic disorders without cofactor deficiency (Rosenberg 1976), it was expected from the outset (Curtius et al 1979) that such a test would also detect cofactor FK M -mutants_ of the phenylalanine hydroxylase (PAH) enzyme itself. None, however, was reported during the next decade (Niederwieser et al 1985).…”

Section: Resultsmentioning

confidence: 99%

Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias

Langenbeck

2008

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

“…However, a number of aminoacidopathies are more effectively treated by oral supplementation of a specific vitamin in pharmacological doses. Of the 2 5 vitamin-responsive aminoacidopathies, 14 are associated with central nervous system signs [66]. Since many represent variants of an aminoacidopathy in which other forms that are vitamin unresponsive may also exist, it is important in each circumstance to determine whether the aminoacidopathy is vitamin responsive.…”

Section: Vitamin-responsive Aminoacidopathiesmentioning

confidence: 99%

Inborn errors of metabolism

Kolodny

Cable

1982

Annals of Neurology

View full text Add to dashboard Cite

Inborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult-onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay-Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux-Lamy disease. In the evaluation of a patient with a possible inborn error of metabolism, simple screening tests may aid in the diagnosis and provide direction for more comprehensive laboratory analysis. In most cases, diagnosis can be established without a brain biopsy through biochemical and ultrastructural analysis of peripheral tissues, blood, and urine. New clinical, genetic, and biochemical variants of inherited metabolic disorders are being recognized through wider application of screening tests, improved specificity of laboratory analysis, cell complementation experiments, and the identification of enzyme activator factors. Accurate diagnosis is important for medical management, determining prognosis, and genetic counseling.

show abstract

Vitamin-Responsive Inherited Metabolic Disorders

Cited by 13 publications

References 125 publications

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.

Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias

Inborn errors of metabolism

Contact Info

Product

Resources

About