Management Guidelines
No clinical practice guidelines for neurocutaneous disorders due to mitochondrial proline synthesis defects have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with these disorders.
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in an individual diagnosed with a neurocutaneous disorder due to a mitochondrial proline synthesis defect, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.
Table 5.
Neurocutaneous Disorders due to Mitochondrial Proline Synthesis Defects: Recommended Evaluations Following Initial Diagnosis
System/Concern | Evaluation | Comment
Biochemical
| Serum urine amino acids | To identify persons w/ levels of ornithine, citrulline, arginine, proline
Skin/wound healing
| • Assess need for additional care for wound healing.
Assess risk for decubitus.
| Wound healing scarring tends to be normal, but lipodystrophy may risk of severe wounds.
Neurologic
| Brain MRI | To assess for gyral abnormalities, thin corpus callosum, ventricular dilatation, intracranial arterial tortuosity/ aneurysms
EEG | To assess for seizures
Full clinical neurologic exam | To assess tone, presence of movement disorders, spasticity
Development
| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval
Eval for early intervention/ special education
Growth
| Assess growth. | Consi...
Source: GeneReviews — "Neurocutaneous Disorders due to Mitochondrial Proline Synthesis Defects"
