Alpers-Huttenlocher Syndrome
Alpers Huttenlocher

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Prevalence (%) of clinical parameters based on data from 2 references describing 7 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Mental retardation nervous 100 % 16957900 2011-10-27
Failure to thrive multi 100 % 16957900 2011-10-27
Hypotonia nervous 100 % 16957900 2011-10-27
Lactate accumulation circulatory 100 % 20142534 2011-10-18
Seizures nervous 100 % 20142534 2011-10-05
Hepatopathy digestive 100 % 16957900 2011-10-27
Developmental delay multi 100 % 20142534 2011-10-11
Hepatopathy digestive 100 % 20142534 2011-10-12
Gastrointestinal dysmotility digestive 75 % 20142534 2011-10-10
Hypotonia nervous 50 % 20142534 2011-10-12
Cerebral atrophy nervous 33 % 16957900 2011-10-27
Short stature skeletal 25 % 20142534 2011-10-05
Cholestasis digestive 25 % 20142534 2011-10-05
Gastric ulcers digestive 25 % 20142534 2011-10-05
Optic atrophy nervous 25 % 20142534 2011-10-05
Ptosis nervous 25 % 20142534 2011-10-12
Hearing loss nervous 25 % 20142534 2011-10-12
Mental retardation nervous 25 % 20142534 2011-10-12



List of references:


Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
Maaike C de Vries, Richard J Rodenburg, Eva Morava, Edwin P M van Kaauwen, Henk ter Laak, Reinier A Mullaart, Irina N Snoeck, Peter M van Hasselt, Peter Harding, Lambert P W van den Heuvel, Jan A M Smeitink,



European journal of pediatrics - Mar 2007



A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Bulent Kurt, Jaak Jaeken, Johan Van Hove, Lieven Lagae, Ann Löfgren, David B Everman, Parul Jayakar, Ali Naini, Klaas J Wierenga, Gert Van Goethem, William C Copeland, Salvatore DiMauro,



Archives of neurology - Feb 2010