Visit Metagene.de!
Summary
PITUITARY HORMONE DEFICIENCY, COMBINED, 3 CPHD3
PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE DEAFNESS, SENSORINEURAL, WITH PITUITARY DWARFISM
221750
OMIM = Online Medalian Inheritance of Men
231720
9q34.3
rare
autosomal recessive
mutation in the LHX3 gene
symptoms
feeding difficulties, poor feeding
growth retardation
hearing defect, deafness
mental retardation
short neck
short stature
skeletal changes, skeletal abnormalities
laboratory finding
MRI, brain, abnormalities -
Human growth hormone (hGH) decreased or absentserum
Thyroid-stimulating hormone (TSH) decreased or absentserum
Follicle stimulating hormone (FSH) decreased or absentserum
Luteinizing hormone (LH) decreased or absentserum
Prolactin decreased or absentserum
Adrenocorticotropic hormone (ACTH) decreased or absentserum
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
Saini AG,Singhi P.Infantile metabolic encephalopathy due to fumarase deficiencyJ Child Neurol284535-5372013
Green R,Datta Mitra AMegaloblastic Anemias: Nutritional and Other CausesMed Clin North Am1012297-3172017
Singh RH,et al.Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approachMol Genet Metab118272-832016
Sentner CP,et al.Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcomeJ Inherit Metab Dis395697-7042016
Vara R,et al.Fumarase deficiency associated with noninflammatory biliary atresiaJ Pediatr Gastroenterol Nutr583e32-342014
Bjursell MK,et al.Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver functionAm J Hum Genet. 2011 Oct 789(4):507-15.894507-5152011
Staufner C,et al.Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic optionsJ Inherit Metab Dis392273-2832016
Copelovitch LUrolithiasis in children: medical approachPediatr Clin North Am594881-8962012