8 research outputs found
Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry
Diagnosis of Creatine Metabolism Disorders by Determining Creatine and Guanidinoacetate in Plasma and Urine
Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations
Item does not contain fulltextDeficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Features in 9 patients reported previously consisted of prenatal growth retardation, pregnancy-induced maternal hypertension and fetal hydrops. Four patients died before 5 years of age, and survivors showed a severe psychomotor retardation. We report on 7 patients with psychomotor delay, microcephaly, strabismus and coagulation abnormalities, seizures and abnormal fat distribution. Four children had a stable clinical course, two had visual impairment, and 1 had hearing loss. Thrombotic and vascular events led to deterioration of the clinical outcome in 2 patients. Four novel ALG1 mutations were identified. Pathogenicity was determined in alg1 yeast mutants transformed with hALG1. Functional analyses showed all novel mutations representing hypomorphs associated with residual enzyme activity. We extend the phenotypic spectrum including the first description of deafness in MT1 deficiency, and report on mildly affected patients, surviving to adulthood. The dysmorphic features, including abnormal fat distribution and strabismus highly resemble CDG due to phosphomannomutase-2 deficiency (PMM2-CDG), the most common type of CDG. We suggest testing for ALG1 mutations in unsolved CDG patients with a type 1 transferrin isoelectric focusing pattern, especially with epilepsy, severe visual loss and hemorrhagic/thrombotic events
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting
pompe disease; glycogen storage disease type II; acid maltase deficiency; diagnosis; lysosomal acid alpha-glucosidase; enzyme assay; acarbose
ACID ALPHA-GLUCOSIDASE; DRIED BLOOD SPOTS; LYSOSOMAL STORAGE DISORDERS; NATURAL COURSE; INFANTILE; TETRASACCHARIDE; ASSAY; LEUKOCYTES; LYMPHOCYTES; FREQUENC