Metabolic disorders or diseases are inherited problems in a child’s internal body chemistry. A doctor must diagnose infants with metabolic disorders and offer nutritional intervention soon after birth, as untreated metabolic disorders can cause severe side effects, such as neurological impairments. Most hospitals screen newborns for metabolic disorders allowing proper dietary management right away.
Metabolic defects affect 1 in 3,500 babies and usually involve a missing or incorrectly formed enzyme (a protein necessary for processing chemical substances in the body). Most children with a metabolic disorder do not have any visible abnormalities, but metabolic defects are usually harmful or can be even fatal.
Metabolic defects include Tay-Sachs disease, a fatal disease that affects the central nervous system, and phenylketonuria (PKU), which affects the way the body processes protein.
Some children with metabolic disorders will have neurological impairment, developmental delay, or other medical issues requiring the child to be treated for a variety things that might include:
- feeding disorders
- muscle weakness or tightness
- coordination difficulties
- speech or language problems
- sensory dysfunction
Your doctor may refer you to a rehabilitation therapist for an evaluation. When you go to the evaluation the therapist will talk with you about your child’s medical history and your present concerns. They will do a physical examination of your child, and observe them play or do other activities. They may complete standardized testing with your child. After the evaluation the therapist will discuss the evaluation findings and whether or not treatment is recommended.
If treatment is recommended for your child the therapist will work together with you to provide interventions best suited to meet you and your child’s therapy goals. The therapist will work directly with your child and equally as important will work with you to provide education, coaching and home programs that will help you care for your child after therapy has ended.