respiratory infection, greenish mucoid stool, dark urine, GE reflux CPK: 1679 IU/L, α-Glucosidase: 4.0 nm/mg*, Urine homogentisic acid: 15027 mmol/mol Creatine Urine 1,4 α-Glucosidase deficiency by GC-MS GAA sequencing: 2 heterozygous (C.670 T in exon [rarediseasesjournal.com]

Moreover, Alkaptonuria is also classified as a secondary amyloidosis because of the deposition of serum amyloid A related to HGA ochronotic pigments; the latter was proven to be co-localized with Alkaptonuria type II Amyloids in the tissues 3,4. [rarediseasesjournal.com]

Case # Reference Age, Gender Signs & Symptoms PMH Laboratory Results Additional Testing Molecular Treatment 1 11 3 years, Male Slow growth, lack of appetite, severe abdominal pain, episodes of gastroenteritis - BH4: normal level Plasma Galactosidase A [rarediseasesjournal.com]

CASE 4: A 9-year-old boy was investigated for lower abdominal pain, gross haematuria and right renal calculus. [ncbi.nlm.nih.gov]

Clinical manifestations of this disorder include macroglossia, hypotonia, cardiomegaly with congestive heart failure, and hepatomegaly. [ahcmedia.com]

Moreover, individuals with Alkaptonuria might have dark urine that turns black when exposed to air, a pathognomonic sign of this disease. [rarediseasesjournal.com]

Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis 2009;32:618-29. 8. Das AM, Steuerwald U, Illsinger S. Inborn errors of energy metabolism associated with myopathies. J Biomed Biotechnol 2010;2010:340849. 9. [ijpm.info]

[…] exercise, lifting, self-care, pain, tiredness), emotional (5 items; anxiety, sadness, angriness, trouble sleeping, worrying), social (5 items; getting along, friends, teasing, keeping up with others, playing) and school-related domains (5 items; attention, forgetting [ojrd.biomedcentral.com]

CASE 2: An 8-month-old boy presented with intractable seizures, feeding difficulties, screaming episodes, microcephaly, facial dysmorphism and severe neuro developmental delay. [ncbi.nlm.nih.gov]