MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)?

Accepted Answer

rare
autosomal recessive
severe developmental delay, intractable seizures and liver involvement in a previously healthy child (Gauthier-Villars M et al. 2001)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Alpers-Huttenlocher-Syndrom; Progressive sklerosierende Poliodystrophie Alpers; MTDPS4A

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 203700

Question 4

Which enzymes are involved?

Accepted Answer

DNA polymerase subunit gamma-1 (POLG)

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
Synonym	ALPERS-HUTTENLOCHER SYNDROME
OMIM	203700 OMIM = Online Mendelian Inheritance of Men
Orphanet	726
Protein (UniProt)	DNA polymerase subunit gamma-1 (POLG)
ExPASy	2.7.7.7
Gene locus	15q26.1
ICD	G31.88
Summary	rare autosomal recessive severe developmental delay, intractable seizures and liver involvement in a previously healthy child (Gauthier-Villars M et al. 2001)
Laboratory findings	3-Methylglutaconic acid inc (urine) Ethylmalonic acid normal/inc (urine) L-Lactic acid normal/inc (plasma) Protein, total inc (cerebrospinal fluid) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	blindness, visual loss, visual impairment lactic acidosis areflexia ataxia chorea or athetosis cirrhosis or fibrosis of liver developmental delay early death EEG abnormalities [-] encephalopathy epilepsy fetal akinesia/hypokinesia sequence hearing defect, deafness hypotonia liver failure liver involvement or dysfunction mental retardation microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] MRS, brain, abnormalities myoclonus neurological deterioration nystagmus onset, adulthood onset, childhood onset, infancy onset, neonatal optic atrophy psychomotor retardation seizures spastic diplegia/quadriplegia/tetraplegia status epilepticus