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Summary
PITUITARY HORMONE DEFICIENCY, COMBINED, 4 CPHD4
SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA
262700
OMIM = Online Medalian Inheritance of Men
85442
1q25.2
rare
autosomal dominant
mutation in the LHX4 gene
symptoms
bone age, delayed
gait disturbance
hypoglycemia
hypothyroidism
myopathy
nystagmus
onset, infancy
onset, neonatal
respiratory distress
short stature
skeletal changes, skeletal abnormalities
strabismus
laboratory finding
MRI, brain, abnormalities -
Thyroid-stimulating hormone (TSH) decreased or absentserum
Human growth hormone (hGH) decreased or absentplasma
Luteinizing hormone (LH) decreased or absentserum
Follicle stimulating hormone (FSH) decreased or absentserum
Adrenocorticotropic hormone (ACTH) decreased or absentserum
Literature
Lu C,et al.Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutationsJ Hum Genet617641-6452016
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
Decostre V,et al.Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type IIINeuromuscul Disord269584-5922016
Hershkovitz E,et al.Glycogen storage disease type III in Israel: presentation and long-term outcomePediatr Endocrinol Rev113318-3232014
Herlin B,et al.Peripheral neuropathy in glycogen storage disease type III: Fact or myth?Muscle Nerve532310-3122016
Zhang B,Zeng XTophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature reviewClin Rheumatol3512851-28562016
Derks TG,Smit GPDietary management in glycogen storage disease type III: what is the evidence?J Inherit Metab Dis383545-5502015
Copelovitch LUrolithiasis in children: medical approachPediatr Clin North Am594881-8962012