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Summary
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 CPHD1
613038
OMIM = Online Medalian Inheritance of Men
95494
3p11.2
rare
autosomal recessive
autosomal dominant
mutation in the POU1F1 gene
symptoms
dysmorphism
growth retardation
hypothyroidism
hypotonia
mental retardation
onset, infancy
onset, neonatal
short stature
small mid-face (malar or maxillary hypoplasia)
laboratory finding
Thyroid-stimulating hormone (TSH) decreasedserum
Human growth hormone (hGH) decreasedserum
Prolactin decreasedserum
MRI, brain, abnormalities -
Literature
Fraidakis MJ,et al.Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH MutationJIMD Rep18085-922015
Singh-Grewal D,Durkan AMPediatric VasculitisIndian J Pediatr832156-1622016
Tsai FC,et al.Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomesJ Chin Med Assoc804253-2612017
Froissart R,et al.Glucose-6-phosphatase deficiencyOrphanet J Rare Dis002011
Al-Dirbashi OY,et al.Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometryJ Inherit Metab Dis341173-1802011
Chou JY,Jun HS, Mansfield BCType I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexesJ Inherit Metab Dis383511-5192015
Heringer J,et al.Use of guidelines improves the neurological outcome in glutaric aciduria type IAnn Neurol685743-7522010