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Details of MCCC2 gene in Homo sapiens
Disease |
|---|
| Disease |
OMIM id |
| Methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3- hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. Note=The disease is caused by mutations affecting the gene represented in this entry. |
210210 |
Phenotypes
Abnormality of acid-base homeostasis, Abnormality of amino acid metabolism, Abnormality of carboxylic acid metabolism, Abnormality of glycine metabolism, Abnormality of metabolism/homeostasis, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of serine family amino acid metabolism, Abnormality of skin adnexa, Abnormality of skin physiology, Abnormality of the genitourinary system, Abnormality of the hair, Abnormality of the integument, Abnormality of the musculature, Abnormality of the skin, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormal muscle tone, Acidosis, Aciduria, All, Alopecia, Aminoaciduria, Amyotrophy, Autosomal recessive inheritance, Eczema, Generalized abnormality of skin, Hyperglycinuria, Inflammatory abnormality of the skin, Ketoacidosis, Ketosis, Mode of inheritance, Muscular hypotonia, Organic aciduria, Phenotypic abnormality, Propionyl-CoA carboxylase deficiency, Seborrheic dermatitis, Sparse or absent hair.
