2-methyl-3-hydroxybutyric aciduria

December 31, 2014

Synonyms

Overview

2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.

Symptoms

Metabolic acidosis
Hypoglycemia
Hypotonia
Seizures
Movement problems
Retinal degeneration
Wweight loss
Severe neurodegeneration
Loss of developmental milestones

Causes

2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition.

Testing Resources:

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening:

The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.