Visit Metagene.de!
Summary
MALONIC ACIDURIA CHAMMA
614265
OMIM = Online Medalian Inheritance of Men
289504
16q24.3
rare
autosomal recesive
autosomal dominant
mutation in the ACSF3 gene
symptoms
behavior, abnormal or bizarre, confusion
cardiomyopathy
developmental delay
dystonia
encephalopathy
failure to thrive
feeding difficulties
headache (severe, recurrent or occipital, migraine)
hypoglycemia
hypotonia
ketosis, ketoacidosis
liver involvement or dysfunction
metabolic acidosis
microcephaly
oculogyric crisis
opisthotonus
psychomotor retardation
seizures
speech difficulties
vomiting
laboratory finding
Malonic acid0.000.00 increasedurineno data
Methylmalonic acid0.000.00 increasedurineno data
Cholesterol normal-decreasedplasma
L-Lactic acid normal-increasedplasma
Carnitine normal-decreasedplasma, DBS
Malonylcarnitine (C3DC) increasedblood
MRI, brain, abnormalities -
Literature
Jaeken J,et al.RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylationJ Inherit Metab Dis Suppl10S335-S3382009
Giuliano Fet al.Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 geneHum Mutat25199-1002005
Jaeken JCongenital disorders of glycosylationHandb Clin NeurolHandb Clin Neurol01131737-17432013
Lin CHet al.Wolfram (DIDMOAD) syndrome: report of two patientsJ Pediatr Endocrinol Metab17101461-14642004
Tanner SMet al.Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor geneProc Natl Acad Sci U S A002005
Ondruskova N,et al.RFT1-CDG in adult siblings with novel mutationsMol Genet Metab107460-622012