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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
onset, childhood
pain, muscle
laboratory finding
L-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