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congenital disorder of glycosylation type IIk

Description

Congenital Disorder of Glycosylation Type IIk (CDG2K)

CDG2K, also known as Congenital Disorder of Glycosylation Type IIk, is an autosomal recessive disorder with a variable phenotype. This condition affects the synthesis of glycans and their attachment to proteins and lipids in cells.

Key Features:

  • Psychomotor Retardation: Affected individuals exhibit significant delays in psychomotor development.
  • Growth Retardation: Most individuals with CDG2K experience growth retardation, leading to short stature.
  • Dysmorphism: Physical abnormalities are common, including unusual facial features and other dysmorphic characteristics.

Other Features:

  • Hypotonia (muscle weakness)
  • Eye abnormalities
  • Developmental delay
  • Failure to thrive

CDG2K is caused by homozygous or compound heterozygous mutations in the COG5 gene. The condition presents with a range of clinical manifestations, and its severity can vary among affected individuals.

References:

  • [10] Description of CDG2K as an autosomal recessive disorder with a variable phenotype.
  • [3] Congenital Disorder of Glycosylation Type IIk is mentioned as a form of congenital disorders of glycosylation characterized by psychomotor delay-dysmorphism.
  • [4] TMEM165-CDG, which includes CDG2K, is described as a form of congenital disorders of N-linked glycosylation characterized by psychomotor delay-dysmorphism.

Additional Characteristics

  • An autosomal recessive disorder with a variable phenotype.
  • Affects the synthesis of glycans and their attachment to proteins and lipids in cells.
  • Caused by homozygous or compound heterozygous mutations in the COG5 gene.
  • Presents with a range of clinical manifestations, varying among affected individuals.

Signs and Symptoms

**Overview of

Diagnostic Tests

Diagnostic Tests for Congenital Disorder of Glycosylation Type IIk

Congenital disorders of glycosylation (CDGs) are a group of rare genetic disorders that affect the body's ability to synthesize complex carbohydrates, leading to various clinical manifestations. The diagnosis of CDG type IIk requires a combination of clinical evaluation and laboratory tests.

Laboratory Tests

  • Serum Carbohydrate Deficient Transferrin (CDT) Analysis: This is the first-line screening test for suspected CDG, including CDG type IIk [3]. However, it has limitations in detecting N-glycosylation defects [7].
  • Isoelectric Focusing (IEF) of Serum Transferrin: IEF is still considered the method of choice for diagnosing N-glycosylation disorders associated with sialic acid deficiency, including CDG type IIk [5].
  • Molecular Genetic Testing: This test is required to confirm a diagnosis of CDG and identify the specific subtype, including CDG type IIk [11].

Other Diagnostic Tests

  • Clinical Evaluation: A thorough clinical evaluation is essential for diagnosing CDG type IIk, which may include failure to thrive, developmental delay, and other multisystem clinical manifestations [15].
  • Biochemical Findings: Abnormal biochemical findings, such as abnormal transferrin isoelectric focusing, can also support the diagnosis of CDG type IIk.

Specimen Requirements

  • Whole Blood or DNA from Whole Blood: These are the acceptable specimen types for testing CDG type IIk [2].

It's essential to note that a combination of clinical evaluation and laboratory tests is necessary for diagnosing CDG type IIk. Molecular genetic testing is required to confirm the diagnosis and identify the specific subtype.

References: [1] Not provided [2] Context 2 [3] Context 7 [5] Context 8 [11] Context 11

Additional Diagnostic Tests

  • Clinical Evaluation
  • Molecular Genetic Testing
  • Serum Carbohydrate Deficient Transferrin (CDT) Analysis
  • Isoelectric Focusing (IEF) of Serum Transferrin
  • Biochemical Findings

Treatment

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Differential Diagnosis

Congenital Disorder of Glycosylation Type IIk (CDG-IIk) Differential Diagnosis

CDG-IIk, also known as TMEM165-CDG, is a rare genetic disorder that affects the body's ability to properly attach sugars to proteins. The differential diagnosis for CDG-IIk involves ruling out other conditions that may present with similar symptoms.

Conditions to Consider:

  • ALG12-CDG (CDG-Ig): This condition also presents with skeletal dysplasia, a feature that is shared with CDG-IIk [7].
  • COG7-CDG: Another type of CDG that can present with similar symptoms, including skeletal abnormalities and developmental delays.
  • PMM2-CDG: A common form of CDG that can present with a wide range of symptoms, including psychomotor retardation, short stature, and eye abnormalities [5].

Key Features to Consider:

  • Skeletal dysplasia: This is a key feature of CDG-IIk, and it should be considered in the differential diagnosis for any condition presenting with skeletal abnormalities.
  • Developmental delays: Children with CDG-IIk often experience developmental delays, which can include delays in speech, language, and motor skills.
  • Eye abnormalities: Eye problems are common in children with CDG-IIk, including strabismus and vision loss.

Diagnostic Approach:

The diagnosis of CDG-IIk is typically made through a combination of clinical evaluation, genetic testing, and biochemical analysis. A thorough medical history and physical examination can help identify the key features of the condition. Genetic testing can confirm the presence of mutations in the TMEM165 gene, which is associated with CDG-IIk.

References:

  • [7] Skeletal dysplasia has been described as a presenting feature of several CDGs, including ALG12-CDG (CDG-Ig), TMEM165-CDG (CDG-IIk), and COG7-CDG.
  • [5] Affected individuals exhibit psychomotor and growth retardation, short stature, dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, ...

Additional Differential Diagnoses

  • PMM2-CDG
  • ALG12-CDG (CDG-Ig)
  • COG7-CDG

Additional Information

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ORDO:314667
IAO_0000115
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.
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TMEM165-CDG
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congenital disorder of glycosylation type IIk
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t349499

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