What Is Trimethylaminuria?

3-methylcrotonic aciduria is a rare neonatal enzyme deficiency disease caused by 3-methylcrotonyl-CoA carboxylase deficiency.

3-methylcrotonic aciduria

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3-methylcrotonic aciduria is a rare neonatal enzyme deficiency disease caused by 3-methylcrotonyl-CoA carboxylase deficiency.

nickname

3-methylcrotonic aciduria

Common causes

3-methylcrotonyl-CoA carboxylase (3-methylcr-otonyl-CoA-carboxylasc) deficiency

Common symptoms

Seizures in infants at 7 weeks, infantile spasms at 12 weeks, optic nerve atrophy at 19 months, ataxia at 21 months

Precautions

No special treatment

symptom

Symptoms of 3-methylcrotonuria are seizures in infants at 7 weeks, infantile spasms in 12 weeks, optic nerve atrophy in 19 months, ataxia in 21 months, lethargy, coma, hip and facial erythematous dermatitis, hair loss , Keratitis.

Diagnosis of 3-methylcrotonuria and other similar neonatal enzyme deficiency diseases:

(A) maple syrup

MSUD is also called branched-chain ketonuria. Divided into 4 types, all excrete excessive amino acids in the urine. The hydrogen on the carbon chain of these amino acids (valine, leucine, isoleucine) is replaced by methyl groups, and all have branched-chain keto acid decarboxylase (branchedchain ketoacid decarboxylase) deficiency.

(B) Hypervalineuria

It was manifested as poor vomiting and suckling for a few days after birth, two months of developmental retardation, nystagmus, excessive exercise, and elevated valine in the blood alone. Presented in AR. Valine aminotransferase deficiency.

( C) isovalerate

Vomiting, acidosis, sweaty, or cheesey odor occurred one week after birth, and she died within weeks. Survivors have ataxia, tremor, lethargy, coma, anemia, and poor intelligence. Caused by the lack of isovalery-CoA dehydrogenase.

(D) homoleucine-isoleucineemia

It manifests as physical and mental retardation, convulsions, retinal degeneration and deafness, and is caused by leucine and isoleucine transa-minase deficiency.

There is no specific treatment for 3-methylcrotonic aciduria.