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Summary
LEPTIN DEFICIENCY OR DYSFUNCTION LEPD
OBESITY, MORBID, NONSYNDROMIC 1
614962
OMIM = Online Medalian Inheritance of Men
66628
7q32..1
very rare
autosomal recessive
mutation in the leptin gene
normal birth weight but rapid weight gain in the first few months of life
symptoms
amenorrhea
gynecomastia
hyperphagia
hypogonadism
infections (severe or recurrent)
liver involvement or dysfunction
micropenis
obesity
onset, childhood
laboratory finding
Leptin lowserum
Follicle stimulating hormone (FSH) normal-decreasedserum
Luteinizing hormone (LH) normal-decreasedserum
Thyroid-stimulating hormone (TSH) increasedserum
Thyroxine (T4) decreasedserum
Literature
Matilainen S,et al.Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletionEur J Hum Genet2530-3932017
Woo HI,Park HD, Lee YWMolecular genetics of citrullinemia types I and IIClin Chim Acta43101-82014
Woo HI,Park HD, Lee YWMolecular genetics of citrullinemia types I and IIClin Chim Acta43101-82014
Armour CM,et al.A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screeningPediatrics1321257-2612013
Kurath-Koller S,et al.Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the LiteratureAJP Rep5153-592015