COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14?

Accepted Answer

very rare (37 patients)
autosomal recessive

mutation in the FARS2 gene

- Infantile-onset phenotype
- Later-onset phenotype

- Juvenile-onset phenotype [Chen Z 2019]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 14

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614946

Question 4

Which enzymes are involved?

Accepted Answer

Phenylalanine--tRNA ligase, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14
Synonym	FARS2 DEFICIENCY
OMIM	614946 OMIM = Online Mendelian Inheritance of Men
Orphanet	319519
Protein (UniProt)	Phenylalanine--tRNA ligase, mitochondrial
Gene locus	6p25.1
ICD	E88.8
Summary	very rare (37 patients) autosomal recessive mutation in the FARS2 gene - Infantile-onset phenotype - Later-onset phenotype - Juvenile-onset phenotype [Chen Z 2019]
Laboratory findings	L-Lactic acid inc (plasma) L-Lactic acid inc (cerebrospinal fluid) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	anemia blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy developmental delay dysmorphism early death EEG abnormalities [-] encephalopathy epilepsy feeding difficulties, poor feeding growth retardation, poor growth hearing defect, deafness hypotonia intellectual disability/intellectual developmental disorder lactic acidosis microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myoclonus onset, childhood onset, infancy paraparesis/paraplegia paresis seizures spastic paraplegia thrombopenia, thrombocytopenia