Table 9.

Recommended Surveillance for Individuals with Glutaric Aciduria Type 1

Manifestation/ConcernEvaluationFrequency/Comment
Poor growth Measurement of growth, weight, & head circumferenceAt each visit
Delayed acquisition of developmental milestones Monitor developmental milestones.At each visit
Neuropsychological testing using age-appropriate standardized assessment batteriesAs needed
Standardized quality-of-life assessment tools for affected individuals & parents/caregiversAs needed
Movement disorder Assessment for clinical symptoms & signs of movement disorders, severity, & responses to treatment, physical therapy, & pharmacologic interventionsAt each visit
Abnormal amino acid levels (amino acid deficiencies & ↑ lysine) Quantitative analysis of plasma amino acids (ideally obtained after a 3-hr protein fast) 1
  • 1st year of life: at least every 3 mos
  • Ages 1-6 yrs: every 6 mos
  • >6 yrs of age: annually
Nutritional deficiencies 2 Calcium, phosphorus, vitamin D, prealbumin, B12, zinc, ferritinIf clinically indicated 3
Chronic renal insufficiency 4 Plasma creatinine &/or cystatin C levelPeriodically in adolescents & adults
Anemia Complete blood count, ferritin levelIf clinically indicated 3
Abnormal liver function ALT/AST , albuminIf clinically indicated 3
Head injury 5 &/or rapid head growth 6 Consider head MRI.If clinically indicated 7

ALT = alanine transaminase; AST = aspartate transaminase

1.

Correlations between plasma lysine concentration and dietary lysine intake are often poor [Kölker et al 2012, Boy et al 2013].

2.

Physicians and specialist metabolic dieticians should be alert to changes in growth velocity, or development of new symptoms that may suggest specific micronutrient or amino acid deficiencies.

3.

These studies are likely to be normal in an affected individual who is in good compliance with prescribed diet and treatment [Boy et al 2017b].

4.

Chronic renal insufficiency may be more common than previously appreciated in adults with GA-1 [Kölker et al 2015b].

5.
6.

Rapid evolution of macrocephaly may suggest development of subdural fluid collections or hemorrhages, and should be imaged appropriately.

7.

Head imaging may have utility in tracking the progression of subependymal mass lesions in individuals with late-onset GA-1 [Herskovitz et al 2013].

From: Glutaric Acidemia Type 1

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