About
Isobutyrylglycinuria (IBG) is an inherited condition in which the body is unable to break down certain proteins, which can lead to a harmful amount of organic acids and other toxins in the body. Symptoms of the condition vary. IBG is a very rare condition. Signs of IBG include delayed growth, sleeping longer or more often, tiredness, pale skin, trouble regulating body temperature, and difficulty breathing. Many of these signs may occur when a baby eats foods that the body cannot break down. If IBG is identified early and treatment is begun, individuals with the condition may be able to lead healthy lives.
Condition Type:
Secondary
Frequency:
Isobutyrylglycinuria (IBG) is extremely rare. The exact number of children affected by IBG is unknown. Fewer than 30 cases have been reported.
More Information for Parents:
Also known as:
- IBG
- IBD deficiency
- Isobutyryl-CoA dehydrogenase deficiency
- Isobutyryl-coenzyme A dehydrogenase deficiency
- Acyl-CoA dehydrogenase family – member 8
- ACAD8 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)
- Guanidinoacetate Methyltransferase (GAMT) Deficiency
- 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)