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ORPHA:25  Glutaryl-CoA dehydrogenase deficiency

:: Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

:: The functional consequences listed below are related to the most common situation of the patients receiving optimal standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support).
However, some patients may receive a particular management (neonatal screening, new treatment, management applying only in specific situations) enabling a better functioning, that is not described here.

 Loss of an ability
Very frequent
Temporality
Severity
Acquiring language
Permanent limitation
Severe
Acquiring language
Acquisition delay
Unspecified
Learning to read
Permanent limitation
Moderate
Learning to read
Acquisition delay
Unspecified
Learning to write
Permanent limitation
Severe
Learning to write
Acquisition delay
Unspecified
Learning to calculate
Permanent limitation
Moderate
Learning to calculate
Acquisition delay
Unspecified
Reading
Permanent limitation
Moderate
Reading
Acquisition delay
Unspecified
Writing
Permanent limitation
Severe
Writing
Acquisition delay
Unspecified
Calculating
Permanent limitation
Moderate
Calculating
Acquisition delay
Unspecified
Focusing attention
Permanent limitation
Low
Making decisions/taking initiatives/finding solutions
Permanent limitation
Low
Making decisions/taking initiatives/finding solutions
Acquisition delay
Unspecified
Receiving messages
Permanent limitation
Low
Receiving messages
Acquisition delay
Unspecified
Receiving written messages
Permanent limitation
Low
Receiving written messages
Acquisition delay
Unspecified
Speaking
Permanent limitation
Severe
Speaking
Acquisition delay
Unspecified
Producing messages in sign language
Permanent limitation
Severe
Producing nonverbal messages
Permanent limitation
Severe
Writing messages
Acquisition delay
Unspecified
Participating in a conversation
Permanent limitation
Severe
Participating in a conversation
Acquisition delay
Unspecified
Using communication devices
Permanent limitation
Moderate
Standing
Permanent limitation
Severe
Standing
Acquisition delay
Unspecified
Sitting
Permanent limitation
Severe
Sitting
Acquisition delay
Unspecified
Bending
Permanent limitation
Severe
Transferring oneself
Permanent limitation
Severe
Maintaining a standing position
Permanent limitation
Complete
Maintaining head position
Permanent limitation
Complete
Reaching and catching objects
Permanent limitation
Severe
Reaching and catching objects
Acquisition delay
Unspecified
Lifting and carrying objects
Permanent limitation
Severe
Lifting and carrying objects
Acquisition delay
Unspecified
Handling objects (fine hand use)
Permanent limitation
Complete
Walking short distances
Permanent limitation
Severe
Walking short distances
Acquisition delay
Unspecified
Walking long distances
Permanent limitation
Complete
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Complete
Washing oneself
Permanent limitation
Severe
Washing oneself
Acquisition delay
Unspecified
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Unspecified
Regulating urination
Permanent limitation
Severe
Regulating defecation
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Severe
Eating
Permanent limitation
Severe
Drinking
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Severe
Moving around within the home
Acquisition delay
Unspecified
Moving around outside the home
Permanent limitation
Severe
Moving around outside the home
Acquisition delay
Unspecified
Using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Complete
Interacting with other people
Permanent limitation
Severe
Interacting with other people
Acquisition delay
Unspecified
Making/keeping friends
Permanent limitation
Severe
Maintaining family relationships
Permanent limitation
Moderate
Dealing with strangers
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Severe
Engaging in sexual relationships
Permanent limitation
Complete
Shopping
Permanent limitation
Severe
Shopping
Acquisition delay
Unspecified
Cooking/preparing meals
Permanent limitation
Severe
Cooking/preparing meals
Acquisition delay
Unspecified
Doing housework
Permanent limitation
Severe
Doing housework
Acquisition delay
Unspecified
Looking after/helping others
Permanent limitation
Severe
Looking after/helping others
Acquisition delay
Unspecified
Attending preschool
Permanent limitation
Moderate
Attending preschool
Acquisition delay
Unspecified
Attending mainstream school
Permanent limitation
Complete
Attending school in an adapted mainstream/special environment
Permanent limitation
Severe
Attending school in an adapted mainstream/special environment
Acquisition delay
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Complete
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Acquisition delay
Unspecified
Accessing higher education
Permanent limitation
Complete
Engaging in paid work in a standard environment
Permanent limitation
Complete
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Acquisition delay
Unspecified
Seeking employment
Permanent limitation
Severe
Seeking employment
Acquisition delay
Unspecified
Performing professional tasks
Permanent limitation
Severe
Performing professional tasks
Acquisition delay
Unspecified
Undertaking a simple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Severe
Playing with others
Permanent limitation
Severe
Socializing
Permanent limitation
Severe
Practicing sports
Permanent limitation
Severe
Participating in the arts and cultural activities
Permanent limitation
Severe
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Acquiring language
Permanent limitation
Complete
Learning to read
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Complete
Reading
Permanent limitation
Severe
Writing
Permanent limitation
Complete
Receiving written messages
Permanent limitation
Severe
Speaking
Permanent limitation
Complete
Producing nonverbal messages
Permanent limitation
Severe
Writing messages
Permanent limitation
Complete
Participating in a conversation
Permanent limitation
Complete
Using communication devices
Permanent limitation
Severe
Standing
Permanent limitation
Complete
Sitting
Permanent limitation
Complete
Bending
Permanent limitation
Complete
Transferring oneself
Permanent limitation
Complete
Transferring oneself
Permanent limitation
Low
Maintaining a standing position
Permanent limitation
Severe
Maintaining a standing position
Acquisition delay
Unspecified
Maintaining head position
Permanent limitation
Severe
Maintaining head position
Acquisition delay
Unspecified
Reaching and catching objects
Permanent limitation
Complete
Lifting and carrying objects
Permanent limitation
Complete
Handling objects (fine hand use)
Permanent limitation
Severe
Handling objects (fine hand use)
Acquisition delay
Unspecified
Walking short distances
Permanent limitation
Complete
Washing oneself
Permanent limitation
Complete
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Complete
Regulating urination
Permanent limitation
Moderate
Regulating defecation
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Complete
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Complete
Controlling one's own general behaviour
Permanent limitation
Severe
Controlling one's own general behaviour
Permanent limitation
Low
Moving around within the home
Permanent limitation
Complete
Moving around outside the home
Permanent limitation
Complete
Driving
Permanent limitation
Severe
Driving
Acquisition delay
Unspecified
Dealing with strangers
Permanent limitation
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Complete
Shopping
Permanent limitation
Complete
Cooking/preparing meals
Permanent limitation
Complete
Doing housework
Permanent limitation
Complete
Looking after/helping others
Permanent limitation
Complete
Attending mainstream school
Permanent limitation
Severe
Attending mainstream school
Acquisition delay
Unspecified
Attending school in an adapted mainstream/special environment
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Unspecified
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Complete
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Severe
Accessing higher education
Acquisition delay
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a standard environment
Acquisition delay
Unspecified
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Complete
Performing professional tasks
Permanent limitation
Complete
Handling money/managing one's own budget
Permanent limitation
Severe
Handling money/managing one's own budget
Acquisition delay
Unspecified
Undertaking a simple task
Permanent limitation
Complete
Taking part in community life
Permanent limitation
Complete
Playing with others
Permanent limitation
Complete
Socializing
Permanent limitation
Complete
Participating in the arts and cultural activities
Permanent limitation
Complete
Travelling
Permanent limitation
Complete
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Severe
Learning to read
Permanent limitation
Low
Learning to write
Permanent limitation
Low
Learning to calculate
Permanent limitation
Low
Reading
Permanent limitation
Low
Writing
Permanent limitation
Low
Focusing attention
Permanent limitation
Severe
Speaking
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Low
Standing
Permanent limitation
Low
Sitting
Permanent limitation
Low
Bending
Permanent limitation
Moderate
Maintaining head position
Permanent limitation
Low
Reaching and catching objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Severe
Walking long distances
Acquisition delay
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Unspecified
Washing oneself
Permanent limitation
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Low
Regulating urination
Acquisition delay
Moderate
Regulating defecation
Acquisition delay
Low
Dressing/undressing
Permanent limitation
Moderate
Eating
Permanent limitation
Low
Drinking
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Low
Moving around outside the home
Permanent limitation
Moderate
Using transportation
Permanent limitation
Low
Driving
Permanent limitation
Moderate
Interacting with other people
Permanent limitation
Moderate
Making/keeping friends
Permanent limitation
Moderate
Dealing with strangers
Permanent limitation
Low
Engaging in sexual relationships
Permanent limitation
Severe
Shopping
Permanent limitation
Low
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Low
Attending preschool
Permanent limitation
Low
Attending mainstream school
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Moderate
Handling money/managing one's own budget
Permanent limitation
Low
Undertaking a simple task
Permanent limitation
Low
Undertaking a complex/multiple task
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Low
Socializing
Permanent limitation
Low
Participating in the arts and cultural activities
Permanent limitation
Low
Not defined
Memorizing and retrieving
Thinking and reasoning
Being aware of time
Being aware of space
Sleeping/staying awake
Handling emotions and mood
Controlling one's own eating behaviour
Carrying out administrative procedures
Environmental factors

:: Following are the environmental factors that should be addressed in order to improve the functioning or limit the restrictions deriving from this disease.

Food
Climate
Temperature
Humidity
Time-related changes
Day/night cycles
Vibrations
Source: Expert
Last update: 16/10/2013

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