About
2-methyl-3-hydroxybutyric (2M3HBA) is an inherited condition in which the body is unable to break down certain proteins. This condition may also affect the body’s ability to break down certain fatty acids and to regulate some activities of the nervous system. Males and females can have different signs of 2M3HBA. Males are more severely affected than females. Males might have trouble with movements of the muscles, developmental delays, and loss of motor skills. Females affected by this condition may experience mild developmental delays. Both males and females may experience sleeping longer or more often, tiredness, loss of appetite, weak muscle tone, and epilepsy (seizures).
Condition Type:
Secondary
Frequency:
2-methyl-3-hydroxybutyric (2M3HBA) is an extremely rare condition. Approximately 11 people have been diagnosed with this condition, but the overall prevalence is unknown.
More Information for Parents:
Also known as:
- 2M3HBA
- HSD10 deficiency
- 3H2MBD deficiency
- 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
- Hydroxyacyl-CoA dehydrogenase II deficiency
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
- MHBD deficiency
Core Conditions
- Propionic Acidemia (PROP)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase Deficiency) (MUT)
- Methylmalonic Acidemia (Cobalamin Conditions)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
- Holocarboxylase Synthetase Deficiency (MCD)
- Beta-Ketothiolase Deficiency (BKT)
- Glutaric Acidemia, Type I (GA-1)
- Mucopolysaccharidosis, Type II (MPS II)
- Biotinidase Deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Classic Galactosemia (GALT)
- Hearing Loss or Varying Hearing Levels
- Severe Combined Immunodeficiency (SCID)
- X-Linked Adrenoleukodystrophy (X-ALD)
- Pompe
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis, Type I (MPS I)
Secondary
- Citrullinemia, Type II (CIT II)
- Hypermethioninemia (MET)
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Ornithine Transcarbamylase Deficiency (OTC)
- Carbamoyl Phosphate Synthetase Deficiency (CPS)
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)