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ORPHA:664  Ornithine transcarbamylase 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.

 Loss of an ability
Very frequent
Temporality
Severity
Accessing higher education
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Moderate
Frequent
Temporality
Severity
Acquiring language
Permanent limitation
Moderate
Learning to read
Permanent limitation
Moderate
Learning to write
Permanent limitation
Moderate
Learning to calculate
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Moderate
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Calculating
Permanent limitation
Moderate
Focusing attention
Permanent limitation
Unspecified
Memorizing and retrieving
Permanent limitation
Unspecified
Thinking and reasoning
Permanent limitation
Unspecified
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Low
Using transportation
Permanent limitation
Low
Driving
Permanent limitation
Low
Interacting with other people
Permanent limitation
Low
Making/keeping friends
Permanent limitation
Low
Dealing with strangers
Permanent limitation
Low
Engaging in and maintaining intimate relationships
Permanent limitation
Low
Engaging in sexual relationships
Permanent limitation
Low
Shopping
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Moderate
Attending preschool
Permanent limitation
Low
Attending mainstream school
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Low
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Low
Seeking employment
Permanent limitation
Low
Performing professional tasks
Permanent limitation
Moderate
Handling money/managing one's own budget
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Moderate
Undertaking a simple 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
Practicing sports
Permanent limitation
Low
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Severe
Being aware of time
Permanent limitation
Moderate
Being aware of space
Permanent limitation
Moderate
Receiving spoken messages
Permanent limitation
Moderate
Receiving messages in sign language
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Moderate
Speaking
Permanent limitation
Moderate
Producing messages in sign language
Permanent limitation
Moderate
Producing nonverbal messages
Permanent limitation
Moderate
Writing messages
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Moderate
Standing
Permanent limitation
Moderate
Maintaining a standing position
Permanent limitation
Moderate
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
Moderate
Washing oneself
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Regulating urination
Permanent limitation
Moderate
Regulating defecation
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Eating
Permanent limitation
Moderate
Drinking
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Low
Handling emotions and mood
Permanent limitation
Low
Controlling one's own general behaviour
Permanent limitation
Low
Controlling one's own eating behaviour
Permanent limitation
Low
Moving around within the home
Permanent limitation
Low
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
Source: Johannes HABERLE[Expert]
Last update: 03/12/2018

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.