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Summary
CONGENITAL DISORDER OF DEGLYCOSYLATION CDDG (NGLY1-CDDG)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv, FORMERLY (CDG1V)
615273
OMIM = Online Medalian Inheritance of Men
404454
3p24.2
very rare
autosomal recessive
mutation in the NGLY1 gene
symptoms
alacrima
constipation
developmental delay
epilepsy
hyporeflexia
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
joint hypermobilty, dislocations
liver involvement or dysfunction
microcephaly (<2 SD for age)
movement disorder, hyperkinetic
muscle atrophy
myoclonus
onset, infancy
optic atrophy
peripheral neuropathy
scoliosis
seizures
speech development, delayed, abnormal
strabismus
laboratory finding
L-Lactic acid mmol/lblood
alpha-Fetoprotein serum
Aspartylglucosamine mmol/mol Creaurine
Transaminases U/lserum
Cholesterol mmol/lserum
Literature
Davis K,et al.ALG9-CDG: New clinical case and review of the literatureMol Genet Metab Rep13055-632017
Rozenfeld P,Feriozzi SContribution of inflammatory pathways to Fabry disease pathogenesisMol Genet Metab002017
Shin HK,et al.Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiencyMol Genet Metab002017
Shaw-Smith C,et al.Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemiaPediatr Diabetes134314-3212012
di Salvo ML,et al.Pyridoxine-5-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.-ÀArg116gln) mutationMol Genet Metab1221135-1422017
Almannai M,et al.Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screeningMol Genet Metab122160-662017
Bergmann AK,et al.Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation updateJ Pediatr1556888-8922009
Talbot A,et al.A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry diseaseMol Genet Metab1221121-1252017
Ciara E,et al.Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencingMol Genet Metab Rep7070-762016