LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD

Question 1

What is  LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD?

Accepted Answer

very rare
autosomal recessive
mutation in the leptin gene
normal birth weight but rapid weight gain in the first few months of life

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Adipositas durch angeborenen Leptinmangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614962

Question 4

Which enzymes are involved?

Accepted Answer

Leptin

Disease	LEPTIN DEFICIENCY OR DYSFUNCTION; LEPD
Synonym	OBESITY, MORBID, NONSYNDROMIC 1
OMIM	614962 OMIM = Online Mendelian Inheritance of Men
Orphanet	66628
Protein (UniProt)	Leptin
Gene locus	7q32..1
ICD	E66.8
Summary	very rare autosomal recessive mutation in the leptin gene normal birth weight but rapid weight gain in the first few months of life
Laboratory findings	Follicle stimulating hormone (FSH) normal/dec (serum) Insulin inc (serum) Leptin normal/dec (serum) Luteinizing hormone (LH) normal/dec (serum) Thyroid-stimulating hormone (TSH) inc (serum) Thyroxine (T4) dec (serum)
Symptoms	amenorrhea gynecomastia hyperphagia hypogonadism infections (severe or recurrent) liver involvement or dysfunction micropenis obesity onset, childhood