Disorders of carnitine transport or the carnitine cycle

Index terms

Disorders of carnitine transport or the carnitine cycle
Carnitine transporter deficiency
Carnitine brain transporter deficiency

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Carnitine uptake deficiency
Primary carnitine deficiency
Carnitine palmitoyltransferase I deficiency
CPT1 - [Carnitine palmitoyltransferase I] deficiency
Liver form of carnitine palmitoyltransferase deficiency
Carnitine palmitoyltransferase II deficiency
CPT2 - [Carnitine palmitoyltransferase II] deficiency
Carnitine palmitoyltransferase II deficiency, myopathic form
Carnitine palmitoyltransferase II deficiency, severe infantile form
Carnitine palmitoyltransferase II deficiency, neonatal form
Carnitine-acylcarnitine translocase deficiency
Muscle carnitine deficiency
Muscle carnitine palmityltransferase deficiency

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

5C52.01 – Disorders of mitochondrial fatty acid oxidation
5C52.02 – Disorders of ketone body metabolism
5C52.03 – Sjögren-Larsson syndrome
5C52.0Y – Other specified inborn errors of fatty acid oxidation or ketone body metabolism
5C52.0Z – Inborn errors of fatty acid oxidation or ketone body metabolism, unspecified

Foundation entity

Disorders of carnitine transport or the carnitine cycle – http://id.who.int/icd/entity/890605309

Part of: 5C52.0: Inborn errors of fatty acid oxidation or ketone body metabolism › 5C52: Inborn errors of lipid metabolism › 05: Endocrine, nutritional or metabolic diseases