Neutral lipid storage disease

Description

Neutral lipid storage disease (NLSD) refers to a group of diseases characterised by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: NLSD with ichthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.

Index terms

Neutral lipid storage disease
Lipidosis with triglyceride storage disease
Dorfman-Chanarin disease

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NLSDI - [Neutral lipid storage disease with ichthyosis]
Neutral lipid storage disease with ichthyosis
Neutral lipid storage myopathy
NLSDM - [Neutral lipid storage myopathy]
Neutral lipid storage disease with myopathy without ichthyosis

Exclusions from above levels

http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia

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5A81.1 – 5-alpha-reductase deficiency
LD28.01 – Marfan syndrome
LD28.1 – Ehlers-Danlos syndrome
LD2A.4 – androgen resistance syndrome
18 – Pregnancy, childbirth or the puerperium
http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

5C52.0 – Inborn errors of fatty acid oxidation or ketone body metabolism
5C52.1 – Inborn errors of sterol metabolism
5C52.Y – Other specified inborn errors of lipid metabolism
5C52.Z – Inborn errors of lipid metabolism, unspecified

Foundation entity

Neutral lipid storage disease – http://id.who.int/icd/entity/621440298

Part of: 5C52: Inborn errors of lipid metabolism › 05: Endocrine, nutritional or metabolic diseases