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Summary
3-METHYLGLUTACONIC ACIDURIA (TYPE IV)
MGA4
250951
OMIM = Online Medalian Inheritance of Men
67048
unknown, not mapped
very rare (15 cases)
autosomal recessive
clinically heterogenous group
symptoms
anemia
cardiac involvement, cardiac defects
cardiomyopathy
cataract
early death
hearing defect, deafness
hyperammonemia
hypertonia, spasticity
hypotonia
inguinal hernia
intellectual disability/intellectual developmental disorder (ID/ IDD)
liver involvement or dysfunction
mental retardation
microcephaly (<2 SD for age)
motor retardation
no clinical signs or symptoms
onset, neonatal
optic atrophy
Organic acids, urine
psychomotor retardation
respiratory distress
seizures
laboratory finding
3-Methylglutaconic acid25.001600.000.009.00mmol/mol creatinineurine
3-Methylglutaric acid5.00215.000.007.00mmol/mol creatinineurine
Thiamine pyrophosphate 50.00152.00increasedurine
Ammonia0.000.0025.0080.00normal-increasedbloodall
L-Lactic acid0.000.00 normal-increasedurineall
Creatine kinase0.000.00 normal-increasedplasmaall
D-Glucose0.000.00 normal-decreasedplasmaall
Carnitine0.000.00 normal-decreasedplasmaall
Citric acid0.000.00 normal-increasedurineall
L-Methionine0.000.00 normal-increasedplasmaall
Literature
de Raeve Let al.Acrodermatitis enteropathica-like cutaneous lesions in organic aciduriaJ Pediatr1243416-4201994
Aynsley-Green AWilliamson DH, Gitzelamann RHepatic glycogen synthetase deficiency. Definition of syndrome from metabolic and enzyme studies on a 9-year-old girlArch Dis Child520573-5791977
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Michalczyk Aet al.Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milkHum Genet1133202-2102003
de Raeve Let al.Acrodermatitis enteropathica-like cutaneous lesions in organic aciduriaJ Pediatr1243416-4201994
El-Kabbani Oet al.Crystal structure of human L-xylulose reductase holoenzyme: probing the role of Asn107 with site-directed mutagenesisProteins550724-7322004
Kelly ALet al.Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolismJ Med Genet389599-6102001
Phelps PDet al.Radiological malformations of the ear in Pendred syndromeClin Radiol534265-2731998
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Shozu MMurakami K, Inoue MAromatase and leiomyoma of the uterusSemin Reprod Med22151-602004
Hayasaka K2-Ketoadipic dehydrogenase deficiency (2-ketoadipic acidemia)Ryoikibetsu Shokogun Shirizu180336-3371998
Vesela Ket al.Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 geneActa Paediatr9301312-13172004