Mitochondrial DNA Depletion Syndrome 4A (Alpers Type)

Alternative Names

  • MTDPS4A
  • Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis
  • Alpers Progressive Infantile Poliodystrophy
  • Alpers Syndrome
  • Alpers-Huttenlocher Syndrome
  • Neuronal Degeneration of Childhood with Liver Disease, Progressive
  • PNDC

Associated Genes

Polymerase, DNA, Gamma
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WHO-ICD-10 version:2010

Diseases of the nervous system

Other degenerative diseases of the nervous system

OMIM Number

203700

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q26.1

Description

Alpers syndrome, also known as mitochondrial DNA depletion syndrome 4A, is a myocerebrohepatopathy spectrum disorder characterized by intractable epilepsy, psychomotor regression, and liver disease. In addition, patients may display other neurological signs, such as ataxia, neuropathy, hypotonia, myoclonus, choreoathetosis, and parkinsonism. Liver degeneration observed in the patients is usually mild at first, but progresses to micronodular cirrhosis, bile-ductular proliferation, and microvesicular steatosis. Most patients are asymptomatic at birth and develop the signs and symptoms of the condition usually within the first two years of life.

Alpers Syndrome is caused by mutations in the POLG gene.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
203700.G.1United Arab EmiratesYes Seizure ; Neurodevelopmental delay ; ...NM_002693.3:c.3286C>THomozygousAutosomal, RecessiveMohamed et al. 2011 7 patients from five...
203700.G.2United Arab EmiratesUnknown Seizure; Neurodevelopmental delay; A...NM_002693.3:c.3286C>THomozygousAutosomal, RecessiveAl-Shamsi et al. 2014 Unknown number of pa...

Other Reports

Palestine

Frydman et al. (1993) reported eight cases of Alpers syndrome in two consanguineous Arab families. Prenatal onset was observed in the first family, whereas the second family presented with early infantile form of the disorder. Severe microcephaly, micrognathia, intrauterine growth retardation, and fetal akinesia were observed in the patients. Complications including refractory neonatal convulsions, swallowing difficulties, and pneumonia affected the clinical course of patients in both families, and all the patients died before the age of 20 months.

United Arab Emirates

Al Jasmi et al. (2020) studied endothelial dysfunction and the effect of arginine and citrulline supplementation in children with mitochondrial diseases. The cohort included a 6 year old Emirati girl with POLG related Alpers disease. The reactive hyperemic index (RHI) was low in patients, indicating endothelial dysfunction. Arginine or citrulline supplementation led to an increase in RHI suggesting that endothelial dysfunction can be improved by supplementation with Nitric Oxide (NO) precursors by enhancing NO production. 

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