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Summary
HYPOTONIA-CYSTINURIA SYNDROME
CYSTINURIA WITH MITOCHONDRIAL DISEASE
606407
OMIM = Online Medalian Inheritance of Men
238523
2q21
very rare
autosomal recessive

symptoms
developmental delay
dysmorphism
failure to thrive
feeding difficulties, poor feeding
fetal akinesia/hypokinesia sequence
hyperphagia
hypoglycemia
hypotonia
muscle weakness
onset, childhood
onset, infancy
onset, neonatal
psychomotor retardation
ptosis (drooping eyelid)
seizures
urolithiasis, kidney stones
laboratory finding
L-Lactic acid mmol/lserum
Cystine mmol/mol Creaurine
Arginine mmol/mol Creaurine
L-Lysine mmol/mol Creaurine
Ornithine mmol/mol Creaurine
Literature
van de Kamp JM,et al.Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyJ Med Genet507463-4722013
Zhang RMNADK, a Long-Awaited Human Mitochondrion-Localized NAD KinaseJ Cell Physiol23081697-17012015
Finnie MD,et al.Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylaseClin Chim Acta733513-5191976
Zhang K,et al.Deficiency of the Mitochondrial NAD Kinase Causes Stress-Induced Hepatic Steatosis in MiceGastroenterology1541224-2372018
Eguchi M,et al.Manifestation of recessive combined D-2-, L-2-hydroxyglutaric aciduria in combination with 22q11.2 deletion syndromeAm J Med Genet A1762351-3582018
Thurm A,et al.Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a CaseJ Dev Behav Pediatr374322-3262016
DesRoches CL,et al.Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 geneGene5652187-1912015