Permanent neonatal diabetes mellitus 1
- Synonyms
- GCK-Related Permanent Neonatal Diabetes Mellitus
Summary
Excerpted from the GeneReview:Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include intrauterine growth restriction, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and results in dramatic catch-up growth. The course of PNDM varies by genotype.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Diva D De León
- Charles A Stanley
- view full author information
Available tests
14 tests are in the database for this condition.
Clinical tests (14 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Elevated hemoglobin A1c
Elevated hemoglobin A1c
- MedGen UID: 892798
- Concept ID: C4073162
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Elevated hemoglobin A1c
- Abnormality of metabolism/homeostasis
- Diabetes mellitus
Diabetes mellitus
- MedGen UID: 8350
- Concept ID: C0011849
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Diabetes mellitus type 1
Diabetes mellitus type 1
- MedGen UID: 41522
- Concept ID: C0011854
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperglycemia
Hyperglycemia
- MedGen UID: 5689
- Concept ID: C0020456
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Reduced C-peptide level
Reduced C-peptide level
- MedGen UID: 909412
- Concept ID: C4280764
- Finding: Finding
Abnormality of metabolism/homeostasis
- Diabetes mellitus
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Fetal growth restriction
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