MAURIAC SYNDROME

Q: What is MAURIAC SYNDROME?

Mauriac syndrome , first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly [Pinto MJF 2018]

Question 1

What is  MAURIAC SYNDROME?

Accepted Answer

Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly [Pinto MJF 2018]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN ---

Question 3

Which enzymes are involved?

Accepted Answer

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Disease	MAURIAC SYNDROME
Synonym	---
OMIM	--- OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	Detail information to gene locus by the National Center for Biotechnology Information NCBI: MAJOR HISTOCOMPATIBILITY COMPLEX
ICD
Summary	Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly [Pinto MJF 2018]
Laboratory findings	Cholesterol inc (serum) L-Lactic acid inc (blood) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	diabetes mellitus growth retardation, poor growth hepatomegaly (large liver) lactic acidosis onset, childhood puberty, delayed or missing