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Paediatric Laboratory Medicine

Valine, Leucine, Alloisoleucine and Isoleucine, Blood Spot

Background

Elevated branched chain amino acids (valine, leucine and isoleucine) occurring with the stereoisomer alloisoleucine is consistent with Maple Syrup Urine Disease (MSUD). Monitoring of blood concentrations is important for the effective management of this metabolic disorder. Dried blood spots provide an effective mechanism for sample transport allowing collections to occur outside of a clinical setting.

Test Name

Valine, Leucine, Alloisoleucine and Isoleucine, Blood Spot

Alternate Name/ Synonym

Maple Syrup Urine Disease; MSUD, Blood Spot

Test Code

YMSUDB

Division

Metabolic Diseases

Turn Around Time

10 days

Disease/Condition

Maple Syrup Urine Disease, MSUD

Specimen Type

Blood Spot

Minimum Specimen Requirements

Saturated filter paper circle. Recommend 2 full circles on a Specimen Collection Card.

Storage/Transportation

Allow sample to completely air dry before shipping at room temperature.

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Reference Range

Reference Intervals Chart - Units = µmol/L
Reference ranges are age dependent.

Test

0-6d

7d- <1mo

1mo- <1y

1- <13y

13- <19y

>19y

Alloisoleucine

0 - 5

0 - 5

0 - 5

0 - 5

0 - 5

0 - 5

Isoleucine

25 - 129

25 - 129

30 - 113

43 - 129

32 - 127

37 - 94

Leucine

46 - 165

55 - 188

55 - 188

85 - 226

84 - 227

74 - 156

Valine

87 - 326

87 - 326

128 - 361

128 - 361

166 - 301

138 - 300