CARNITINE DEFICIENCY, MYOPATHIC

Question 1

What is  CARNITINE DEFICIENCY, MYOPATHIC?

Accepted Answer

rare
autosomal recessive (?)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Carnitin-Mangel, myopathisch

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 212160

Question 4

Which enzymes are involved?

Accepted Answer

defect in carnitine uptake (?)

Disease	CARNITINE DEFICIENCY, MYOPATHIC
Synonym	CARNITINE DEFICIENCY, MYOPATHIC; MYOPATHY-METABOLIC, CARNITINE DEFICIENCY, PRIMARY AND SECOND
OMIM	212160 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	unknown
ICD	---
Summary	rare autosomal recessive (?)
Laboratory findings	Ammonia inc (blood) D-Glucose dec (serum) Dicarboxylic acids inc (urine) L-Carnitine dec (plasma) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	cardiomyopathy early death encephalopathy failure to thrive hepatomegaly (large liver) hyperammonemia hypoglycemia infections (severe or recurrent) muscle weakness myopathy onset, childhood pain, muscle