Glossary
a
b
c
- Carbamazepine
- Carbohydrate
- Cardiologist
- Cardiomyopathy
- Carnitine uptake test
- Carpal Tunnel Syndrome
- Carrier
- Cataracts
- Cell
- Cerebral infarct
- Cerebral palsy (CP)
- Chaperone therapy
- Cheek swab
- Chemotherapy
- Chloride
- Chorea
- Choreoathetosis
- Chorionic Villus Sampling (CVS)
- Chromosome
- Chronic
- Cirrhosis
- Citrulline
- Clinical trial
- Clitoris
- Close relative
- Coma
- Complete blood count (CBC)
- Computed tomography (CT)
- Congenital
- Corneal Clouding
- Cortisol
- Cortisone
- Cushing syndrome
- Cyanocobalamin (CN-cbl)
- Cystine (cys) (or L-cystine)
d
f
- Fallo ovariano prematuro
- False negative
- False positive
- Family medical history
- Fat
- Fatigue
- Fatty acid oxidation
- Fatty acid oxidation disorders (FAODs)
- Fatty acid oxidation probe
- Fatty acids
- Ferritin
- Fetal blood sampling
- Fetal echocardiogram
- Fetal ultrasound
- First-degree relative
- Florinef (Fludrocortisone)
- Flow cytometry (FCM)
- Folic Acid
- Fontanel
g
- Gabapentin
- Galactose
- Galactose-1-phosphate uridyl transferase (GALT)
- Gallstones
- Gene
- Gene therapy
- Genetic
- Genetic code
- Genetic counseling
- Genetic counselor
- Genetic map
- Genetic marker
- Genetic metabolic specialist
- Geneticist
- Genitals
- Genome
- Genomic DNA
- Glaucoma
- Glucose
- Glutaric acid
- Glycine (gly)
- Glycogen
- Glycogen Storage Disorder
- Goiter
- Growth Plates
h
- Hematologist
- Hematopoeitic Stem Cell Transplant
- Hemoglobin
- Hereditary
- Homocystine (hcy)
- Hormona
- Hormona estimulante de la tiroides
- Hormone
- Hydrocephalus
- Hydrocortisone
- Hydrops fetalis
- Hydroxocobalamin
- Hydroxylysine
- Hyperactivity
- Hyperplasia
- Hypertonia
- Hypoglycemia
- Hypoplastic left heart syndrome
- Hypothyroidism
- Hypotonia
i
l
m
- Magnetic Resonance Imaging (MRI)
- Maternal
- Maternal PKU syndrome
- Measles
- Meconium ileus
- Medical geneticist
- Medical release form
- Medium chain triglyceride oil (MCT oil)
- Medium-chain fatty acids (MCFA)
- Metabolic acidosis
- Metabolic crisis
- Metabolic disorder
- Metabolic doctor
- Metabolic Genetic Specialist
- Metabolism
- Methionine (met)
- Methylmalonic acid
- Microcephaly
- Mitochondria
- Muscle tone
- Mutation
- Myxedema
n
p
- Pancreas
- Pancreatic insufficiency
- Pancreatitis
- Pediatric cardiologists
- Pedigree
- Penicillin
- Peroxisomal Disorders
- Peroxisome
- Phenylalanine (Phe)
- Phenylketonuria (PKU)
- Platelets
- Pneumonia
- Polycystic ovary syndrome (PCOS)
- Polymorphism
- Preimplantation genetic diagnosis
- Premature ovarian failure (POF)
- Primary immune deficiency disorders (PID)
- Propionic acid
- Protein
- Pseudodeficiency
- Psychiatric disorder
- Psychosis
- Pulmonary atresia (with intact septum)
- Pulmonary stenosis
- Pulse
- Pulse oximetry
r
s
t
- T-cell receptor excision circles (TREC)
- T-cells (also called lymphocytes)
- Tandem Mass Spectrometry
- Tetralogy of Fallot
- Thalassemias
- Thiamine
- This is one of the 20 methionines (meth)
- Threonine (thr)
- Thymus gland
- Thyroid stimulating hormone (TSH)
- Thyroid uptake and scan
- Thyroxine
- Total anomalous pulmonary venous return
- Tracking
- Transposition of the great arteries
- Tricuspid atresia
- Truncated
- Truncus arteriosus
- Tryptophan (trp)
- Tyrosine (tyr)
v