title: A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia.
abstract: Leprechaunism is a rare autosomal recessive disorder which is usually fatal in early infancy or childhood. There is a paucity of genetic data on leprechaunism in the Arab population. A 4-month-old boy presented with jaundice, asymptomatic hypoglycaemia and growth retardation with features  of leprechaunism. A novel Cys807Arg was identified, which could facilitate antenatal diagnosis for families in the Middle East.
authors: Division of Child Health, Royal Hospital, Bowsher, Muscat, Sultanate of Oman.
authors: Zaineb S
authors: ZS
authors: Baqir
authors: Tawfiq T
authors: TT
authors: Al-Lawati
authors: Saniya O
authors: SO
authors: Al Hussaini
authors: Aisha
authors: A
authors: Al-Sinani
authors: Khoula
authors: K
authors: Al-Said
authors: Ismail
authors: I
authors: Al-Rashdi
mesh_terms: D018912:Arabs; D056731:Donohue Syndrome / Q000175:diagnosis*; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology*; D007223:Infant; D008297:Male; D008877:Middle East; D020125:Mutation, Missense; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D011972:Receptor, Insulin