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Summary
MUCOLIPIDOSIS IV
SIALOLIPIDOSIS
252650
OMIM = Online Medalian Inheritance of Men
578
19p13.2
rare
autosomal recessive
mutation in the MCOLN1 gene
About 5% of individuals have atypical mucolipidosis IV, often manifest as less severe psychomotor retardation and/or eye findings [Schiffmann R, 2015]
symptoms
anemia
blindness, visual loss, visual impairment
corneal clouding
corneal deposits
defect of walking, running, rising or climbing
dystonia
hyperreflexia
hypotonia
mental retardation
microcephaly (<2 SD for age)
motor retardation
muscle atrophy
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
photophobia or photosensitive defect in light-exposed area
progressive neurologic defect
psychomotor retardation
spastic diplegia/quadriplegia
strabismus
laboratory finding
Electron microscopy -
Iron decreasedserum
Creatine kinase normal-increasedserum
Gastrin increasedplasma
Phospholids increasedurine
Literature
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993
Volchenboum SLVockley J Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenaseJ Biol Chem27507958-79632000
Mandel HEspeel M, Roels F, Sofer N, Luder A, Iancu TC, Aizin A, Berant M, Wanders RJA, Schutgens RBHA new type of peroxysomal disorder with variable expression in liver and fibroblastsJ Pediatr1254549-5551994
Matalon RMichaelis K, Kaul R, Whitman V, Rodriguez-Novo J, Goodman S, Thornburn DMalonic aciduria and cardiomyopathyJ Inherit Metab Dis160571-5731993
Barkaoui EDebray D, Habes D, Ogier H, Bernard OFavorable outcome of treatment with NTBC of acute liver insufficiency disclosing hereditary tyrosinemia type IArch Pediatr65540-5441999
Reynolds SSuccessful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approachJ Multidiscip Healthc80345-3582015
Mornet Eet al.Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase geneHum Mutat150309-3152000
Wortmann SB,et al.Inborn errors of metabolism in the biosynthesis and remodelling of phospholipidsJ Inherit Metab Dis38199-1102015
Matalon RMichaelis K, Kaul R, Whitman V, Rodriguez-Novo J, Goodman S, Thornburn DMalonic aciduria and cardiomyopathyJ Inherit Metab Dis160571-5731993