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Mitochondriales DNA-Depletionssyndrom 13; MTDPS13

MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13

very rare (< 100 patients) autosomal recessive mutation in the FBXL4 gene

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13
OMIM	615471 OMIM = Online Mendelian Inheritance of Men
Orphanet	369897
Protein (UniProt)	F-box/LRR-repeat protein 4
Gene locus	6q16.1-q16.2
ICD	E88.8
Summary	very rare (< 100 patients) autosomal recessive mutation in the FBXL4 gene
Laboratory findings	Alanine inc (plasma) Ammonia normal/inc (serum) Creatine kinase normal/inc (serum) L-Lactic acid inc (serum) L-Lysine normal/inc (plasma) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	ataxia cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, hypertrophic cataract cerebellar atrophy or hypoplasia cerebral atrophy colitis or enterocolitis developmental delay dysmorphism dysphagia dystonia encephalopathy failure to thrive growth retardation, poor growth hyperammonemia hypotonia infections (severe or recurrent) intellectual disability/intellectual developmental disorder lactic acidosis leukodystrophy microcephaly (<2 SD for age) MRI, brain, abnormalities [-] muscle atrophy neutropenia (decreased neutrophils) nystagmus onset, childhood onset, infancy onset, neonatal seizures small for gestational age (SGA), intrauterine growth retardation (IUGR) weight loss white matter changes, abnormalities