Disorders of organic acid metabolism and epilepsy

Acta Epileptologica

Table 1 The pathogenic genes, inheritance, seizure types, and treatment of disorders of organic acid metabolism associated with epilepsy

	Pathogenic gene	Inheritance	Types of seizures	Treatment
Methylmalonic acidemia	MUT	AR	GTCS, tonic seizure, clonic seizure, myoclonic seizure, focal seizures, epileptic spasms, etc.	ASM, Vit B12, special formula (free of methionine, valine, threonine, isoleucine)
Propionic acidemia	PCCA /PCCB	AR	GTCS, etc.	ASM, special formula (free of methionine, valine, threonine, isoleucine)
Malonyl coenzyme A decarboxylase deficiency	MLYCD	AR		ASM, a low-fat diet
Creatine deficiency syndrome
CCDS1	SLC6A8	XLR	Focal seizures, epileptic spasms, etc.	ASM, supplemental therapy with large doses of L-arginine and L-glycine
CCDS2	GAMT	AR	GTCS, myoclonic seizure, etc.	ASM, creatine monohydrate and other creatine supplements, ornithine supplementation, restriction of protein or arginine intake
CCDS3	AGAT	AR		ASM, creatine monohydrate and other creatine supplements
L-2-hydroxyglutaric aciduria	L2HGDH	AR	GTCS, focal seizures, etc.	ASM, add riboflavin and carnitine (L-carnitine)
D-2-hydroxyglutaric aciduria-1	D2HGDH	AR	GTCS, myoclonic seizure, focal seizures, absence seizures, etc.	ASM (PB, benzodiazepines)
3-methylglutaconic aciduria	HTRA2	AR	Clonic seizure, etc.	ASM
Glutaric acidemia type 1	GCDH	AR	GTCS, atonic seizure, absence seizures, etc	ASM, special formula (lysine-free, arginine-rich), carnitine supplements
Fumaric aciduria	FH	AR	GTCS, epileptic spasms, focal seizures, clonic seizure, etc.	ASM (LCM)

Abbreviations: AR Autosomal recessive, ASM Anti-seizure medication, GTCS Generalized tonic-clonic seizure, LCM Lacosamide, PB Phenobarbital, XLR X-linked recessive

ISSN: 2524-4434