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Hyper-beta-alaninemia

Known as: Hyperalaninemia 
An increased concentration of alanine in the blood. [HPO:gcarletti, pmid:16902722, pmid:4696900]
National Institutes of Health

Related topics

Related topics

3 relations
Alaninemia

Broader (2)

Disorders of Excessive SomnolenceSeizures

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Mitochondrial defects associated with β-alanine toxicity: relevance to hyper-beta-alaninemia
Hyper-beta-alaninemia is a rare metabolic condition that results in elevated plasma and urinary β-alanine levels and is… 
Highly Cited
2013
Highly Cited
2013
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup
Mutations of both nuclear and mitochondrial DNA (mtDNA)–encoded mitochondrial proteins can cause cardiomyopathy associated with… 
2010
2010
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
Highly Cited
2004
Highly Cited
2004
Hyperlactatemia in Human Immunodeficiency Virus–Uninfected Infants Who Are Exposed to Antiretrovirals
Objective. Exposure to nucleoside analogues in fetal or early life has been associated with rare clinically significant… 
1986
1986
Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase.
Since birth a female child had been weak and hypotonic. At three months of age, head control was lacking; sucking and crying were… 
Highly Cited
1975
Highly Cited
1975
Influence of Oral Glucose Ingestion on Splanchnic Glucose and Gluconeogenic Substrate Metabolism in Man
To evaluate the role of splanchnic and peripheral tissues in the disposal of an oral glucose load, splanchnic exchange of glucose… 
Highly Cited
1973
Highly Cited
1973
Influence of glucocorticoids on glucagon secretion and plasma amino acid concentrations in man.
Plasma concentrations of glucagon, insulin, glucose, and individual plasma amino acids were measured in normal nonobese and obese… 
Highly Cited
1973
Highly Cited
1973
A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness.
Highly Cited
1971
Highly Cited
1971
The effect of alanine on glucagon secretion.
If glucagon plays a hormonal role in the regulation of gluconeogenesis from endogenous amino acids, its secretion might be… 
Highly Cited
1969
Highly Cited
1969
Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria.
This report describes the case of a child with optic atrophy and intermittent episodes of ataxia recurring after infection or… 
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