Initially Suspected Disorders

Many years often pass before the disorder comes to clinical attention. In its milder forms, friends and co-workers of undiagnosed narcolepsy sufferers may view the daytime sleepiness as a sign of laziness, poor motivation, or overt hostility. They may also suspect the person of abusing alcohol or other substances. In these cases, narcolepsy patients may seek an initial mental health consultation at the insistence of others. 

No single test is available to confirm the diagnosis of heartfailure. Because the syndrome of heart failure can be caused or worsened by multiple cardiac and noncardiac disorders, accurate diagnosis is essential for development of therapeutic strategies. Heart failure often is suspected initially in a patient based on the symptoms. These frequently will include dyspnea, exercise intolerance, fatigue, and/or fluid retention. However, it must be emphasized that signs and symptoms lack sensitivity for diagnosing heart failure because these symptoms are found frequently with other disorders such as pulmonary disease. Even in patients with known heart failure, there is poor correlation between the presence or severity of symptoms and hemodynamic abnormality. 

The diagnosis of chemically induced respiratory disorders requires a careful occupational history (Bernstein, DI, 1993). A good history should try to establish an occupational relationship with the initiation of symptoms. For example, OA typically improves away from work and recurs upon reexposure. However, there are several instances where a history may fail to identify the relationship between respiratory symptoms and work (Bernstein, DI, 1993). For example, workers suspected of having OA may manifest primarily a LAR and therefore may not have symptoms until they are at home or away from work. Also if OA is very severe there may not be noticeable improvement of symptoms away from work (Bernstein, DI, 1993). 

A. When a disorder in galactose metabolism is suspected, especially in GALT and GALE, elimination of dietary lactose/galactose from the diet shotild be initiated immediately even before the diagnosis is confirmed by enzyme assay and/or DNA analysis. 

These disorders provide a fascinating insight into the heterogeneity and complexity of an initially apparently simple single enzyme defect and demonstrate the value of early organic acid analysis of urine from suspected cases when with simple therapeutic measures complete recovery and normal development may be effected. 

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