Q611 – 613: Inherited Disorders of Metabolism

Question 1: Date of diagnosis of primary disease for infusion

Use the following guidelines if the recipient was diagnosed with a non-malignant disease:

• Newborn screening: If the diagnosis was made using a newborn screening, report the date of birth as the diagnosis date.
• Genetic testing: If the recipient was not diagnosed with a newborn screening, report the date of genetic testing that confirmed the diagnosis.
• Other Definitive Assessment: If genetic testing was not completed, report the date of the other definitive assessment (i.e., electrophoresis, flow cytometry, etc.), that confirmed the diagnosis.
• Diagnosis by exclusion: If the diagnosis was made by exclusion (i.e., all assessments returned normal and the diagnosis made clinically), report the date of the clinical diagnosis as documented by the physician.
• Diagnosis at an outside center: If the diagnosis was completed at an outside center (the confirmatory test such as genetic testing, another definitive test, or clinical diagnosis) and the HCT / CT center performs their own confirmatory testing, report the date of the initial confirmatory test as the diagnosis date.
  • If the exact date is not known or documentation is limited, report an estimated date.

Enter the date the sample was collected for examination. If the diagnosis was determined at an outside center, and no documentation of a pathological or laboratory assessment is available, the dictated date of diagnosis within a physician note may be reported. Do not report the date symptoms first appeared.

If the exact diagnosis date is not known, use the process described in General Instructions, Guidelines for Completing Forms.

Questions 611 – 612: Specify inherited abnormalities of metabolism classification

Indicate the inherited abnormalities of metabolism disease classification at diagnosis. If the subtype is not listed, report as Other inherited metabolic disorder and specify the reported disease.

If a certain disease becomes a common indication for infusion, the CIBMTR will add the disease as a separate category.

Question 613: Report the Loes composite score (Adrenoleukodystrophy (ALD) only)

The Loes composite score is often used to assess disease/progression for recipients with ALD. The Loes composite score is a rating from 0-34, this signifies the severity of abnormalities detected in the brain after evaluation of MRI. Report the Loes composite score. If the score is unknown, check with a transplant physician to determine this value.

Section Updates:

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