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Up to: Inborn disorder of amino acid and other organic acid metabolism · Amino acid metabolism disease
Inborn disorder of amino acid metabolism
An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
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Inborn disorder of phenylalanine and tyrosine metabolism 0 trials · 65 incl. sub-types Sub-types →
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Urea cycle disorder 14 trials · 30 incl. sub-types Sub-types →
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Inborn organic aciduria 5 trials · 29 incl. sub-types Sub-types →
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Inborn disorder of amino acid transport 1 trial · 16 incl. sub-types Sub-types →
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Homocystinuria 7 trials · 11 incl. sub-types Sub-types →
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Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 6 trials · 7 incl. sub-types Sub-types →
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Albinism 6 trials Sub-types →
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Cerebral creatine deficiency syndrome 0 trials · 6 incl. sub-types Sub-types →
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Inborn disorder of branched-chain amino acid metabolism 0 trials · 4 incl. sub-types Sub-types →
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Inborn disorder of ornithine metabolism 0 trials · 4 incl. sub-types Sub-types →
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Adenylosuccinate lyase deficiency 2 trials
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Gamma-amino butyric acid metabolism disorder 0 trials · 1 incl. sub-types Sub-types →
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Inborn serine deficiency 0 trials · 1 incl. sub-types Sub-types →
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Brunner syndrome 0 trials
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Aminoacylase 1 deficiency 0 trials
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Arakawa syndrome 2 0 trials
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Cystathioninuria 0 trials
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Glycine encephalopathy 0 trials Sub-types →
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Hyperglycinemia, transient neonatal 0 trials
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Hyperlysinemia 0 trials Sub-types →