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Disease	3-METHYL-CROTONYL-GLYCINURIA
Synonym	BETA-METHYLCROTONYLGLYCINURIA I;MCC; ACIDURIA, BETA-METHYL-CROTONYL-GLYCINURIA
OMIM	210200 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	3-methylcrotonyl-CoA carboxylase Detailed enzyme information on www.expacy.ch
Gene locus	3q25-q27
genetests.org	search search on genetest.org by MIM 210200
Summary	rare (12 cases) 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 dehydration
Clinical symptoms	early death failure to thrive feeding difficulties, poor feeding hair loss hyperammonemia hypoglycemia hypotonia ketosis lethargy, drowsiness, malaise or sleep disorder metabolic acidosis motor retardation no clinical signs or symptoms onset, child onset, infant Organic acids, urine seizures strokelike episodes tomcat's urine odor vomiting
Abnormal Findings in blood	3-Hydroxyisovalerylcarnitine (C5-OH) \| Significant : - increased Ammonia Normal: 25.00-80.00 µmol/l \| Significant : 100.00-300.00 µmol/l pH Normal: 7.35-7.45 no unit \| Significant : 7.00-7.40 no unit
Abnormal Findings in fibroblasts	3-Methylcrotonyl-CoA carboxylase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in leucocytes	3-Methylcrotonyl-CoA carboxylase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in serum	Carnitine, free Normal: 35.00-55.00 µmol/l \| Significant : - decreased Glucose Normal: 3.30-5.50 mmol/l \| Significant : 0.50-3.00 mmol/l Transaminases Normal: 10.00-30.00 U/l \| Significant : - increased
Abnormal Findings in urine	2-Oxoglutaric acid Normal: 50.00-152.00 mmol/mol creatinine \| Significant : - normal/increased 3-Hydroxyisovaleric acid Normal: 0.00-46.00 mmol/mol creatinine \| Significant : 1700.00-59000.00 mmol/mol creatinine 3-Methylcrotonylglycine Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 400.00-1000.00 mmol/mol creatinine Ketone bodies \| Significant : - +/++
Treatment	biotin glycine high-carbohydrate diet L-carnitine leucine-restricted diet low-protein diet
Picture 95	Tandem mass spectrum of acylcarnitines in dried blood in a patient with 3-methyl-crotonyl-glycinuria
Literature	There are 12 publications available. Click here to open the relevant 3-METHYL-CROTONYL-GLYCINURIA publications
Ramedis Case reports with long term followup	There are 12 patient data available. Click here to open the list of 3-METHYL-CROTONYL-GLYCINURIA patients documented in Ramedis database