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Summary
CARNITINE DEFICIENCY, MYOPATHIC
CARNITINE DEFICIENCY, MYOPATHIC MYOPATHY-METABOLIC, CARNITINE DEFICIENCY, PRIMARY AND SECOND
212160
OMIM = Online Medalian Inheritance of Men
---
unknown
rare
autosomal recessive (?)
symptoms
cardiomyopathy
early death
encephalopathy
failure to thrive
hepatomegaly (large liver)
hyperammonemia
hypoglycemia
infections (severe or recurrent)
muscle weakness
myopathy
pain, muscle
laboratory finding
Carnitine0.0020.0035.0055.00-Ámol/lplasma
D-Glucose0.503.003.305.50mmol/lserum
Ammonia200.002000.0025.0080.00-Ámol/lblood
Transaminases30.002000.0010.0030.00U/lserum
Dicarboxylic acids0.000.00 increasedurineno data
Literature
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Kim SZet al.Hydroxyprolinemia: comparison of a patient and her uneffected twin sisterJ Pediatr1300437-4411997
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Weinstein DA,et al.Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemiaMol Genet Metab874284-2882006