About
Methylmalonic acidemia with homocystinuria (Cbl C, D, F) is one type of methylmalonic acidemia. Individuals with this form of methylmalonic acidemia have trouble producing certain cobalamin enzymes, which causes harmful levels of homocysteine and methylmalonic acid to build up in the body. Signs of methylmalonic acidemia with homocystinuria could begin anywhere between the first few days of life and 14 years of age. Children with Cbl C usually show symptoms between the first few days and the first month of life. Children with Cbl D deficiency do not show signs until later in childhood. Early signs of Cbl C, D, F include delayed growth, small head size, skin rash, vomiting, poor appetite, diarrhea, fever, sleeping longer or more often, tiredness, and weak muscle tone. Many of these signs may occur when a baby eats foods that the body cannot break down.
Condition Type:
Secondary
Frequency:
Methylmalonic acidemia is estimated to affect 1 out of every 50,000 to 100,000 individuals. However, methylmalonic acidemia with homocystinuria (Cbl C, D, F) is only one form of methylmalonic acidemia, and the exact number of people affected by this specific form is unknown.
More Information for Parents:
Also known as:
- Cbl C, D, F
- Type 2 vitamin B12 metabolic defect
- Methyltetrahydrofolate methyltransferase deficiency
- Combined deficiency of methylmalonyl CoA mutase and homocystinuria
- CblC
- CblD
- CblF
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)