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with MSUD, depending on the mutation, show variable degrees of enzyme deficiency leading to several different clinical phenotypes [1]. Approximately 75% of MSUD patients have the classic form of the disease with BCKDH activity in the range of 0–2% of normal [1]. These patients show markedly elevated levels of BCAA in blood and other body fluids [1]. Besides the classic form, there are other variants of the disease. Patients with the intermediate form of the disease show BCKDH activity in the range of 3–30% of normal. In such patients the onset of the disease is delayed, but there are persistently elevated levels of BCAA [1]. Patients with the intermittent form of MSUD show BCKDH activity in the range of 5–20% and during the asymptomatic phase the blood BCAA levels are normal [1]. The overall incidence of MSUD in the general population is 1:185,000 [1], and in certain population groups, such as Mennonites of Pennsylvania, the incidence is estimated to be as high as 1:176 [2]."}

{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T3196","span":{"begin":37,"end":45},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T3197","span":{"begin":72,"end":78},"obj":"CHEBI_GO_SO_EXT:enzyme"},{"id":"T3198","span":{"begin":320,"end":324},"obj":"CHEBI:22918"},{"id":"T3199","span":{"begin":328,"end":333},"obj":"UBERON:0000178"},{"id":"T3200","span":{"begin":344,"end":355},"obj":"UBERON:0006314"},{"id":"T3201","span":{"begin":632,"end":636},"obj":"CHEBI:22918"},{"id":"T3202","span":{"begin":766,"end":771},"obj":"UBERON:0000178"},{"id":"T3203","span":{"begin":772,"end":776},"obj":"CHEBI:22918"}],"text":"Patients with MSUD, depending on the mutation, show variable degrees of enzyme deficiency leading to several different clinical phenotypes [1]. Approximately 75% of MSUD patients have the classic form of the disease with BCKDH activity in the range of 0–2% of normal [1]. These patients show markedly elevated levels of BCAA in blood and other body fluids [1]. Besides the classic form, there are other variants of the disease. Patients with the intermediate form of the disease show BCKDH activity in the range of 3–30% of normal. In such patients the onset of the disease is delayed, but there are persistently elevated levels of BCAA [1]. Patients with the intermittent form of MSUD show BCKDH activity in the range of 5–20% and during the asymptomatic phase the blood BCAA levels are normal [1]. The overall incidence of MSUD in the general population is 1:185,000 [1], and in certain population groups, such as Mennonites of Pennsylvania, the incidence is estimated to be as high as 1:176 [2]."}

{"project":"craft-ca-core-dev","denotations":[{"id":"T3110","span":{"begin":320,"end":324},"obj":"CHEBI:22918"},{"id":"T3111","span":{"begin":328,"end":333},"obj":"UBERON:0000178"},{"id":"T3112","span":{"begin":344,"end":355},"obj":"UBERON:0006314"},{"id":"T3113","span":{"begin":632,"end":636},"obj":"CHEBI:22918"},{"id":"T3114","span":{"begin":766,"end":771},"obj":"UBERON:0000178"},{"id":"T3115","span":{"begin":772,"end":776},"obj":"CHEBI:22918"}],"text":"Patients with MSUD, depending on the mutation, show variable degrees of enzyme deficiency leading to several different clinical phenotypes [1]. Approximately 75% of MSUD patients have the classic form of the disease with BCKDH activity in the range of 0–2% of normal [1]. These patients show markedly elevated levels of BCAA in blood and other body fluids [1]. Besides the classic form, there are other variants of the disease. Patients with the intermediate form of the disease show BCKDH activity in the range of 3–30% of normal. In such patients the onset of the disease is delayed, but there are persistently elevated levels of BCAA [1]. Patients with the intermittent form of MSUD show BCKDH activity in the range of 5–20% and during the asymptomatic phase the blood BCAA levels are normal [1]. The overall incidence of MSUD in the general population is 1:185,000 [1], and in certain population groups, such as Mennonites of Pennsylvania, the incidence is estimated to be as high as 1:176 [2]."}