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- Title
PMM2‐CDG and nephrotic syndrome: A case report.
- Authors
Banderali, Giuseppe; Salvatici, Elisabetta; Rovelli, Valentina; Jaeken, Jaak
- Abstract
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by a defect in the protein glycosylation process. Enzymes involved in this metabolic mechanism have ubiquitous distribution; thus, their alteration can cause systemic involvement and considerable phenotypic variability. Nephrotic syndrome (NS) is a clinical condition characterized by edema, hypoalbuminemia, hyperlipidemia, and proteinuria. We hereby report the case of a girl with central hypotonia, epilepsy, and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2‐CDG) after presenting with nephrotic syndrome at age 4 years. CDG are a group of diseases altering the glycosylation process; enzymes involved have ubiquitous distribution with systemic involvement and high phenotypic variability. PMM2‐CDG can present as a multisystemic disease with a wide variety from a mild‐to‐severe degree of clinical organ dysfunction and related dysmorphology. We report the case of a girl with central hypotonia, epilepsy and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2‐CDG) after presenting with nephrotic syndrome.
- Subjects
NEPHROTIC syndrome; CONGENITAL disorders; PHENOTYPIC plasticity; TEMPORAL lobe epilepsy; EPILEPSY; METABOLIC disorders; LENNOX-Gastaut syndrome
- Publication
Clinical Case Reports, 2022, Vol 10, Issue 2, p1
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.5347