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Summary
MALONYL-COA DECARBOXYLASE DEFICIENCY
MALONIC ACIDURIA
248360
OMIM = Online Medalian Inheritance of Men
943
16q23.3
  • low-fat diet
very rare
autosomal recessive
mutation in the MLYCD gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
constipation
decreased muscle volume, atrophy or hypoplasia
developmental delay
diarrhea
epilepsy
hypoglycemia
hypotonia
ketosis, ketoacidosis
lactic acidosis
mental retardation
metabolic acidosis
onset, infancy
Organic acids, urine
pain, abdominal
seizures
short stature
vomiting
laboratory finding
Malonic acid40.00440.000.002.00mmol/mol creatinineurine
Acylcarnitine/carnitine ratio24.0024.001.002.00no uniturine
Malonyl-CoA decarboxylase0.303.008.2015.70nmol/h/mg proteinfibroblasts
Ethylmalonic acid180.001150.00 mmol/mol creatinineurineno data
D-Glucose0.503.002.805.00mmol/lserum
Methylmalonic acid150.0015500.000.002.00mmol/mol creatinineurinenewborn
pCO215.0045.0038.0042.00mm Hgblood
pH7.007.407.357.45no unitblood
Adipic acid0.000.00 normal/increasedurineno data
Succinic acid0.000.00 normal-increasedurineno data
Suberic acid0.000.00 increasedurineno data
MRI, brain, abnormalities -
Ammonia normal-increasedblood
Glutaric acid normal-increasedurine
Malic acid normal-increasedurine
Malonylcarnitine (C3DC) increasedurine
Sebacic acid normal-increasedurine
Fumaric acid normal-increasedurine
Literature
Donohoue Pet al.Congenital adrenal hyperplasiaThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202929-29661995
Leonard Het al.Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosisAm J Med Genet83088-951999
Ballabio AShapiro LJSteroid sulfatase deficiency and X-linked ichthyosisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2962999-30221995
Ledbetter DHBallabio AMolecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalanceThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.10811-8391995
Choi R,et al.Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage diseaseClin Chim Acta444050-532015
Moser HWSmoth KD, Moser ABX-linked adrenoleukodystrophyThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2722325-23491995
Monin ML,et al.29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeOrphanet J Rare Dis1192072014
Muro Set al.Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253Hum Mutat14089-901999
Simon DBet al.Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorptionScience2850103-1061999
Sweetman LWilliams JCBranched chain organic aciduriasThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.101387-14491995