Mitochondrial Dna Depletion Syndrome 4a (MTDPS4A)

Alias:

Alpers Syndrome

Alpers-Huttenlocher Syndrome

Alpers Progressive Infantile Poliodystrophy

Progressive Sclerosing Poliodystrophy

Alpers Disease

Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis

Diffuse Cerebral Sclerosis of Schilder

Progressive Neuronal Degeneration of Childhood with Liver Disease

Alpers Progressive Sclerosing Poliodystrophy

Mtdps4a

Pndc

Neuronal Degeneration of Childhood with Liver Disease, Progressive

Neuronal Degeneration of Childhood with Liver Disease Progressive

Mitochondrial Dna Depletion Syndrome 4a Alpers Type

Mitochondrial Dna Depletion Syndrome, Type 1

Alpers' Disease or Gray-Matter Degeneration

Alper's Syndrome

Ahs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Dna Depletion Syndrome 4a, also known as alpers syndrome, is related to mitochondrial dna depletion syndrome and polg-related disorders, and has symptoms including ataxia, myoclonus and vomiting. An important gene associated with Mitochondrial Dna Depletion Syndrome 4a is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are tRNA Aminoacylation and Mitochondrial complex IV assembly. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include liver and cortex, and related phenotypes are spasticity and ataxia

Related ID：

MALACARDS：MTC056

OMIM：203700

MESH：D002549