METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (MECREN)

Question 1

What is  METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (MECREN)?

Accepted Answer

rare

autosomal recessive

mutation in the SLC25A42 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618416

Question 3

Which enzymes are involved?

Accepted Answer

Mitochondrial coenzyme A transporter SLC25A42

Disease	METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (MECREN)
OMIM	618416 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	----
Gene locus	19p13.11
ICD	---
Summary	rare autosomal recessive mutation in the SLC25A42 gene
Laboratory findings	Ammonia n/i (blood) Creatine kinase inc (serum) L-Lactic acid inc (plasma)
Symptoms	abnormal movement ataxia chorea or athetosis defect of walking, running, rising or climbing developmental delay developmental regression dystonia hypotonia intellectual disability/intellectual developmental disorder lactic acidosis muscle weakness onset, childhood rhabdomyolysis seizures speech development, delayed, abnormal