Ataxia due to abetalipoproteinemia

Description

Ataxia in the setting of abetalipoproteinemia, a rare autosomal recessive disorder caused by a mutation of the MTP gene coding for microsomal triglyceride transfer protein which impairs the ability to produce very low density lipoprotein. All patients have fat malabsorption, acanthocytosis, hypocholesterolemia, and absent apolipoprotein B.

Index terms

Ataxia due to abetalipoproteinemia
Ataxia due to Bassen-Kornzweig syndrome

Exclusions from above levels

http://id.who.int/icd/entity/155258022 – Metabolic disorders
http://id.who.int/icd/entity/76906748 – Cerebral palsy
6A06 – Stereotyped movement disorder

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05 – Endocrine, nutritional or metabolic diseases
18 – Complications of pregnancy, childbirth and the puerperium
19 – Certain conditions originating in the perinatal period
22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

8A03.10 – Friedreich ataxia
8A03.11 – Ataxia due to Cerebrotendinous xanthomatosis
8A03.12 – Ataxia due to Refsum disease
8A03.14 – Hereditary episodic ataxia
8A03.15 – Ataxia due to mitochondrial mutations
8A03.16 – Spinocerebellar ataxia
8A03.1Y – Other specified hereditary ataxia
8A03.1Z – Hereditary ataxia, unspecified

Foundation entity

Ataxia due to abetalipoproteinemia – http://id.who.int/icd/entity/203890331

Part of: 8A03.1: Hereditary ataxia › 8A03: Ataxic disorders › 08: Diseases of the nervous system