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Xanthomas

1. Cerebrotendinous xanthomatosis

Vomiting and Erroneous Diagnosis of Pyloric Stenosis

 1. Ethylmalonic-adipic aciduria...

Subdural effusions

1. Glutaric aciduria I

Stroke-like Episodes

1. Carbamyl phosphate synthetase deficiency

Spastic Paraparesis

1. Argininemia

Sensorineural Deafness

1. Biotinidase deficiency

Self Injurous Behavior

1. Lesch-Nyhan disease

Scoliosis

1. Congenital disorder of glycosylation

Rhabdomyolysis

1. Aldolase A (fructose bisphosphate) deficiency ...

Reynaud Syndrome

1. Fabry disease

Reye Syndrome Presentation

1. Gluconeogenesis, disorders of fatty acid oxidation disorders

Retinitis Pigmentosa

1. Abetalipoproteinemia

Renal tubular acidosis (RTA)

1. Cystinosis

Renal Fanconi Syndrome

1. Cystinosis

Renal Calculi

1. APRT (adenosine phosphoribosyltransferase) deficiency

Red Urine

1. Beets

Ragged Red Fibers

1. Menkes Disease

Ptosis

1. Dopamine deficiency syndromes

Psychotic Behavior

1. Carbamoyl phosphate synthetase deficiency

Polycystic Kidneys

1. Carnitine palmitoyl transferase II (CPT-II) deficiency

Photophobia

1. Cystinosis

Paralysis of Upward Gaze

1. Leigh, Kearns-Sayre syndromes

Pancreatitis

1. Carnitine palmitoyltransferase II deficiency

Pain and Elevated Erythrocyte Sedimentation Rate

1. Fabry disease

Osteoporosis and Fractures

1. Adenosine deaminase deficiency

Orotic Aciduria

1. UMP synthase deficiency (hereditary orotic aciduria)...

Optic Atrophy

1. ADP-ribosyl protein lyase deficiency

Odd or Unusual Odor

1. Dimethylglycinuria

Neonatal Hepatic Presentation in Metabolic Diseases

1. α-1-Antitrypsin deficiency

Myocardial infarction-cerebral vascular disease

1. Fabry disease

Mongolian Spot-Extensive

1. GM₁ gangliosidosis

Methymalonic aciduria

1. B₁₂ deficiency, pernicious anemia, including autoimmune

Metabolic Acidosis and Ketosis

1. Fabry disease

Megaloblastic anemia

1. Cobalamin metabolic errors-methylmalonic acidemia and homocystinuria-C...

Macrocephaly

1. Bannayan-Ruvalcaba-Riley syndrome

Leukopenia with or without Thrombopenia and Anemia

1. Abnormalities of folate metabolism

Leigh Syndrome

1. Biotinidase deficiency

Lactic Acidemia

1. Electron transport chain disorders

Isolated Deficiency of Speech as Presentation in Metabolic Disease

1. Ethylmalonic aciduria

Inverted Nipples

1. Biopterin synthesis disorders

Ichthyosis and Retinal Disease

1. Refsum syndrome

Ichthyosis

1. CHILD syndrome (congenital hemidysplasia ichthyosis and limb defects)

Hypouricemia

1. Fanoni syndrome, cystinosis, any proximal renal tubular dysfunction

Hypophosphatemia

1. Fanconi syndrome ...

Hypoketotic Hypoglycemia

1. Carnitine transporter deficiency

Hypertyrosinemia

1. Deficiency of 4-hydroxyphenylpyruvate dioxygenase...

Hyperammonemia

1. N-Acetylglutamate synthetase deficiency...

Hydrops Fetalis

1. Carnitine transporter deficiency

Hepatic Failure – Acute

1.  α-1-Antitrypsin deficiency

Hepatic Cirrhosis

1.  α-1-Antitrypsin deficiency

Hepatic Carcinoma

1. α-1-Antitrypsin deficiency

Hemophagocytosis (Erythrophagocytosis)

1. Carnitine palmitoyl transferase I

Hemolytic Anemia

1. Defects of glycolysis

HDL (lipoprotein) Low

1. Lecithin cholesterol acyltransferase (LCAT) deficiency (fish eye disea...

Hair Abnormalities

1. Argininosuccinic aciduria

Glycosuria

1. Cystinosis

Fever Syndromes

1. Familial Mediterranean fever

Exercise Intolerance

1. Defects of glycogenolysis

EEG Burst Suppression Pattern

1. Anesthesia-deep stages

Ecpotia Lentis (dislocation of the lens)

1. Homocystinuria

Dysostosis Multiplex

1. Galactosialidosis

Diarrhea

1. Abetalipoproteinemia

Diabetes Mellitus-Erroneous Diagnosis

1. Congenital disorders of glycosylation

Dermatosis

1. Acrodermatitic enteropathica

Creatine Kinase-Elevated

1. Aldolase A deficiency

Corpus Callosum Agenesis

1. Adrenocorticotrophic hormone (ACTH) deficiency

Corneal Opacity

1. Cystinosis

Cirrhosis of the liver

1. α-1-Antitrypsin deficiency

Chronic Pancreatitis

1. Hereditary (dominant) (with or without lysinuria (cystinuria)): with o...

Chondrodysplasia Phenotypes

1. Conradi-Hϋnermann syndrome

Cholestatic Jaundice

1. Alagille syndrome

Cherry Red Macular Spots

1. Galactosialidosis

Cerebrospinal Fluid Protein Elevation

1. Congenital disorders of glycosylation CCDG

Cerebrospinal Fluid Lymphocytosis

1. Aicardi-Goutieres syndrome

Cerebral Vascular Disease

1. Fabry Disease

Cerebral Calcification

1. Abnormalities of folate metabolism

Cataracts-Lenticular Opacity

1. Delta1-pyrroline-5-synthase deficiency 2. Cerebrotendinous xanthomato...

Cardiomyopathy

1. Congenital muscular dystrophy 2. Danon disease

Calcification of Basal Ganglia

1. Albrigth syndrome 2. Bilateral striato-pallido-dentate calcinosis

Bleeding Tendency

1. Abetalipoproteinemia 2. α-1-Antitrypsin deficiency

Arthritis

1. Alkaptonuria 2. Farber disease

Apparent Acute Encephalitis

1. Glutaric aciduria I 2. NARP

Angiokeratomas

1. Fabry disease 2. Fucosidosis

Alopecia

1. An (hypo) hidrotic ectoderma dysplasia 2. Biotin deficiency

Acidosis

1. Hyperchloremic diarrhea 2. Acrodermatitis, enteropathica...

3-Hydroxyglutaric Aciduria

1. Glutaryl-CoA dehydrogenase deficiency

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