Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A Japanese boy had clinical features of congenital disorder of glycosylation type Ia (CDG Ia, also known as carbohydrate-deficient-glycoprotein syndrome, previously), and enzymatic and molecular assay of phosphomannomutase confirmed this diagnosis. During infancy, the patient showed delayed mental and motor development, hypotonia, ataxia, hepatomegaly, liver dysfunction, abnormal coagulation system and cerebellar hypoplasia. At present, though he is 3 years and 8 months old, he cannot utter meaningful words or sit by himself. These findings suggested that he had one of the severe phenotypes of Japanese CDG Ia. Mutational analysis demonstrated heterozygosity for the missense mutation in exon 4 (P113L) and a novel nonsense mutation in exon 7 (R194X). We report his clinical course and the results of molecular assay, and discuss correlation between clinical severity and genotype.
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PMID:Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia. 1312 99

Congenital disorder of glycosylation type I (CDG I) represent a rapidly growing group of inherited multisystem disorders with 13 genetically established subtypes (CDG Ia to CDG Im), and a high number of biochemically unresolved cases (CDG Ix). Further diagnostic effort and prognosis counselling are very challenging in these children. In the current study, we reviewed the clinical records of 10 CDG Ix patients and compared the data with 13 CDG Ix patients published in the literature in search for specific symptoms to create clinical subgroups. The most frequent findings were rather nonspecific, including developmental delay and axial hypotonia. Several features were found that are uncommon in CDG syndrome, such as elevated creatine kinase or arthrogryposis. Distinct ophthalmological abnormalities were observed including optic nerve atrophy, cataract and glaucoma. Two subgroups could be established: one with a pure neurological presentation and the other with a neurological-multivisceral form. The first group had a significantly better prognosis. The unique presentation of microcephaly, seizures, ascites, hepatomegaly, nephrotic syndrome and severe developmental delay was observed in one child diagnosed with CDG Ik. Establishing clinical subgroups and increasing the number of patients within the subgroups may lead the way towards the genetic defect in children with a so far unsolved type of the congenital disorders of glycosylation. Raising awareness for less common, non-CDG specific clinical features such as congenital joint contractures, movement disorders or ophthalmological anomalies will encourage clinicians to think of CDG in its more unusual presentation. Clinical grouping also helps to determine the prognosis and provide better counselling for the families.
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PMID:Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. 1850 May 72