Mitochondrial DNA depletion syndrome 4a
MONDO:0008758A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
Also known as: AHD, AHS, Alper syndrome, Alper's disease, Alper's syndrome, Alpers Disease, Alpers Huttenlocher disease, Alpers Huttenlocher syndrome
59 clinical trials for this condition and its sub-types.
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Disease
(618)
Nervous system disorder
(217)
Metabolic disease
(215)
Hereditary disease
(172)
Neurodegenerative disease
(155)
Peripheral nervous system disorder
(107)
Neuromuscular disease
(98)
Central nervous system disorder
(97)
Peripheral neuropathy
(90)
Inborn mitochondrial metabolism disorder
(57)