3-METHYL-CROTONYL-GLYCINURIA (3-MCC, MCC1D)

Question 1

What is  3-METHYL-CROTONYL-GLYCINURIA (3-MCC, MCC1D)?

Accepted Answer

rare (1:60000)
autosomal recessive
exclude multiple carboxylase deficiency
- neonatal/early infantile form with seizures, hypotonia, feeding difficulties and vomiting
- late-onset form with seizures, hyperammonemia, hypoglycemia - juvenile form with vomiting and dehydratiion
-> asymptomatic 3MCC deficient mothers when they showed abnormal results during a neonatal screening test of a healthy infant [Kör D 2015, Lee SH 2014]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

3-Methylcrotonyl-CoA-Carboxylase-Mangel, isoliert

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 210200

Question 4

Which enzymes are involved?

Accepted Answer

Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial

Disease	3-METHYL-CROTONYL-GLYCINURIA (3-MCC, MCC1D)
Synonym	BETA-METHYLCROTONYLGLYCINURIA I;MCC; ACIDURIA, BETA-METHYL-CROTONYL-GLYCINURIA; MCC1 DEFICIENCY
OMIM	210200 OMIM = Online Mendelian Inheritance of Men
Orphanet	6
Protein (UniProt)	Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
ExPASy	6.4.1.4
Gene locus	3q27.1
ICD	E71.1
Summary	rare (1:60000) autosomal recessive exclude multiple carboxylase deficiency - neonatal/early infantile form with seizures, hypotonia, feeding difficulties and vomiting - late-onset form with seizures, hyperammonemia, hypoglycemia - juvenile form with vomiting and dehydratiion -> asymptomatic 3MCC deficient mothers when they showed abnormal results during a neonatal screening test of a healthy infant [Kör D 2015, Lee SH 2014]
Laboratory findings	3-Hydroxyisovalerylcarnitine (C5-OH) inc (blood) 3-Hydroxyisovaleric acid inc (urine) 3-Methylcrotonylglycine inc (urine) 2-Oxoglutaric acid inc (urine) 3-Methylcrotonyl-CoA carboxylase dec (leucocytes) 3-Methylcrotonyl-CoA carboxylase dec (fibroblasts) 3-Methylcrotonylcarnitine (C5:1) normal/inc (blood) Ammonia inc (blood) D-Glucose dec (serum) Ketone bodies (urine) normal/inc (urine) L-Carnitine dec (serum) pH normal/dec (blood) Transaminases (ASAT/ALAT) inc (serum) Uric acid normal/inc (plasma)
Symptoms	cardiomyopathy failure to thrive hyperammonemia hypotonia no clinical symptoms (probably) cardiac involvement, cardiac defects cerebral atrophy encephalopathy episodic course (clinical symptoms) feeding difficulties, poor feeding hypertonia, spasticity ketosis, ketoacidosis lethargy, drowsiness, apathy metabolic acidosis motor retardation muscle weakness neutropenia (decreased neutrophils) pain, muscle psychomotor retardation seizures skin, infections (macules, wheals, papules, pustules) strokelike episodes thrombopenia, thrombocytopenia unusual odor / odour white matter changes, abnormalities dermatitis early death hypoglycemia MRI, brain, white matter abnormalities [-] onset, childhood onset, infancy Organic acids, urine vomiting