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Summary

Disease	3-METHYLGLUTACONIC ACIDURIA (TYPE I)
Synonym	3-METHYLGLUTACONICACIDURIA ACIDURIA, 3-METHYLGLUTACONIC TYPE I
OMIM	250950 OMIM = Online Medalian Inheritance of Men
Orphanet	67046
Gene locus	9q22.31
Treatment	low-protein diet
Summary	very rare autosomal recessive mutation in the AUH gene disorder of leucine degradation

symptoms

ataxia

athetosis

basal ganglia, changes, lesions, calcifications (MRI, CT)

cerebellar atrophy or hypoplasia

chorea or athetosis

coma

dystonia

failure to thrive

hyperreflexia

hypoglycemia

leukoencephalopathy

mental retardation

metabolic acidosis

motor retardation

onset, adulthood

onset, childhood

onset, infancy

optic atrophy

Organic acids, urine

paraparesis/paraplegia

respiratory distress

seizures

small for gestational age (SGA), intrauterine growth retardation (IUGR)

speech development, delayed, abnormal

white matter changes, abnormalities

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
3-Hydroxyisovaleric acid	50.00	2800.00	10.00	66.00	mmol/mol creatinine	urine	Childhood
3-Methylglutaric acid	5.00	10.00	0.00	7.00	mmol/mol creatinine	urine
3-Methylglutaconic acid	168.00	900.00	0.00	9.00	mmol/mol creatinine	urine
3-Methylglutaconyl-CoA hydratase	0.00	5.00		100.00	% of normal	fibroblasts
D-Glucose	0.50	3.00	2.80	5.00	mmol/l	serum
Lactic acid	1.00	6.00	0.90	1.80	mmol/l	blood
pH			7.35	7.45	decreased	blood
Chloride			98.00	106.00	increased	serum
MRI, brain, abnormalities -
MRI, brain, white matter abnormalities -
Ammonia	0.00	0.00			normal-increased	blood	all
Creatine kinase	0.00	0.00			normal-increased	plasma	all

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Slocum RH	Cummings, J.G.	Amino Acid Analysis of Physiological Samples	Techniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York		0	0	87-125	1991
Kury S	et al.	Identification of SLC39A4, a gene involved in acrodermatitis enteropathica	Nat Genet		31	3	239-240	2002
Slocum RH	Cummings, J.G.	Amino Acid Analysis of Physiological Samples	Techniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York		0	0	87-125	1991
Raben N	et al.	Various classes of mutations in patients with phosphofructokinase deficiency (Tarius disease)	Muscle Nerve Suppl		3	0	S35-S38	1995
Shoffner JM	Wallace DC	Oxidative phosphorylation diseases	The metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.		1	46	1535-1609	1995
Slocum RH	Cummings, J.G.	Amino Acid Analysis of Physiological Samples	Techniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York		0	0	87-125	1991
Moerman P	et al.	Fetal akineasia sequence caused by glycogenosis type VIII	Genet Couns		6	11	15-20	1995
Obici L	et al.	First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome	Arthritis Rheum		50	9	2966-2969	2004
Slocum RH	Cummings, J.G.	Amino Acid Analysis of Physiological Samples	Techniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York		0	0	87-125	1991
Sharp D	et al.	Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinemia	Nature		365	0	55-69	1993
Steinberg SJ	Fensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat AP	Measurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal Disorders	J Inher Metab Dis		17	0	323-326	1994
Guneral F	Bachmann C	Age-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric Population	Clin Chem		40	6	862-868	1994
Narcisi TM	et al.	Mutations of the microsomal triglyceride-transfer protein gene in abetalipoproteinemia	Am J Hum Genet		57	0	1298-1310	1995
Hayasaka K		2-Ketoadipic dehydrogenase deficiency (2-ketoadipic acidemia)	Ryoikibetsu Shokogun Shirizu		18	0	336-337	1998
Raupp P	et al.	Novel genotype of mevalonic aciduria with fatalities in premature siblings	Arch Dis Child Fetal Neonatal Ed		89	1	F90-91	2004
Vesela K	et al.	Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene	Acta Paediatr		93	0	1312-1317	2004
Feillet F	et al.	Maternal phenylketonuria: the French survey	Eur J Pediatr		163	0	540-546	2004